ClinVar Genomic variation as it relates to human health
NC_000001.11:g.63395673_63749318del
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
ALG6 | - | - |
GRCh38 GRCh37 |
762 | 795 | |
DLEU2L | - | - | - | GRCh38 | - | 11 |
EFCAB7 | - | - |
GRCh38 GRCh37 |
21 | 51 | |
FOXD3 | - | - |
GRCh38 GRCh37 |
1 | 71 | |
ITGB3BP | - | - |
GRCh38 GRCh37 |
7 | 36 | |
LOC121725027 | - | - | - | GRCh38 | - | 11 |
LOC129930667 | - | - | - | GRCh38 | - | 11 |
LOC129930668 | - | - | - | GRCh38 | - | 69 |
LOC129930669 | - | - | - | GRCh38 | - | 22 |
LOC129930670 | - | - | - | GRCh38 | - | 11 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 23, 2023 | RCV003326057.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023