ClinVar Genomic variation as it relates to human health
NM_012471.3(TRPC5):c.1339C>T (p.Leu447=)
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 | |||
TRPC5 | - | - |
GRCh38 GRCh37 |
71 | 234 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 1, 2023 | RCV003432394.5 | |
Likely benign (1) |
|
Feb 21, 2019 | RCV003954215.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024