ClinVar Genomic variation as it relates to human health
NM_001173393.3(HAVCR1):c.521C>T (p.Thr174Met)
Germline
Classification
(1)
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 | |||
HAVCR1 | - | - |
GRCh38 GRCh37 |
46 | 64 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
HAVCR1-related disorder
|
Benign (1) |
|
Sep 11, 2019 | RCV003914450.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024