ClinVar Genomic variation as it relates to human health
NM_020361.5(CPA6):c.1090G>T (p.Val364Leu)
Germline
Classification
(1)
Uncertain significance
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 | |||
CPA6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 247 | |
ARFGEF1-DT | - | - | - | GRCh38 | - | 116 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 8, 2021 | RCV003145865.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024