ClinVar Genomic variation as it relates to human health
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
DSC2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1546 | 1681 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 14, 2023 | RCV003087534.2 | |
Likely benign (1) |
|
Sep 1, 2022 | RCV003420326.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024