ClinVar Genomic variation as it relates to human health
NM_015958.3(DPH5):c.619C>T (p.Arg207Ter)
Germline
Classification
(2)
Pathogenic
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 | |||
DPH5 | - | - |
GRCh38 GRCh37 |
5 | 30 | |
SLC30A7 | - | - |
GRCh38 GRCh37 |
28 | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 6, 2022 | RCV002287887.1 | |
Pathogenic (1) |
|
Dec 2, 2022 | RCV003492750.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024