ClinVar Genomic variation as it relates to human health
NM_001366145.2(TRPM3):c.4642G>A (p.Gly1548Arg)
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 | |||
KLF9-DT | - | - | - | GRCh38 | - | 90 |
TRPM3 | - | - |
GRCh38 GRCh37 |
123 | 256 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 1, 2024 | RCV004546826.1 | |
Likely benign (1) |
|
Feb 23, 2021 | RCV004550986.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024