ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3(chr6:1744004-2006554)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
GMDS | - | - |
GRCh38 GRCh37 |
25 | 118 | |
LOC126859553 | - | - | - | GRCh38 | - | 35 |
LOC129389428 | - | - | - | GRCh38 | - | 35 |
LOC129995606 | - | - | - | GRCh38 | - | 35 |
LOC129995607 | - | - | - | GRCh38 | - | 36 |
LOC129995608 | - | - | - | GRCh38 | - | 36 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 16, 2011 | RCV000137859.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024