ClinVar Genomic variation as it relates to human health
NM_024422.6(DSC2):c.21C>T (p.Ser7=)
Germline
Classification
(1)
Likely benign
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 | |||
DSC2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1560 | 1695 | |
DSCAS | - | - | - | GRCh38 | - | 162 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 4, 2023 | RCV004013392.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024