ClinVar Genomic variation as it relates to human health
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
Germline
Classification
(3)
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 | |||
RIT1 | - | - |
GRCh38 GRCh37 |
299 | 322 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 12, 2020 | RCV002333868.1 | |
Likely benign (2) |
|
Apr 11, 2023 | RCV003094690.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024