ClinVar Genomic variation as it relates to human health
NM_130384.3(ATRIP):c.1754G>A (p.Cys585Tyr)
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 | |||
ATRIP | - | - |
GRCh38 GRCh37 |
1 | 789 | |
ATRIP-TREX1 | - | - | - | GRCh38 | - | 773 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 20, 2024 | RCV004683386.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024