ClinVar Genomic variation as it relates to human health
NM_130797.4(DPP6):c.627+21114G>A
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 | |||
DPP6 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
247 | 296 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 1, 2022 | RCV003423861.4 | |
Likely benign (1) |
|
Dec 27, 2021 | RCV003908960.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024