ClinVar Genomic variation as it relates to human health
NM_001943.5(DSG2):c.2124A>G (p.Gln708=)
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 | |||
DSG2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1100 | 1896 | |
DSG2-AS1 | - | - | - | GRCh38 | - | 691 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 2, 2022 | RCV003631727.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024