GRCh37/hg19 6p25.3(chr6:1989529-2084356)x1 AND See cases

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 16, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001270255.2

Allele description

GRCh37/hg19 6p25.3(chr6:1989529-2084356)x1

Gene:: GMDS:GDP-mannose 4,6-dehydratase [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 6p25.3
Genomic location:: Chr6: 1970407 - 2093302 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 6p25.3(chr6:1989529-2084356)x1
HGVS:: NC_000006.11:g.(1970407_1989529)_(2084356_2093302)del
This HGVS expression did not pass validation
Observations:: 1

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450469	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Uncertain significance (Sep 16, 2020)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450469

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Uncertain significance
(Sep 16, 2020)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Goettingen, SCV001450469.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

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