ClinVar Genomic variation as it relates to human health
NM_002853.4(RAD1):c.799G>C (p.Val267Leu)
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 | |||
RAD1 | - | - |
GRCh38 GRCh37 |
- | 55 | |
TTC23L | - | - |
GRCh38 GRCh37 |
15 | 94 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
RAD1-related disorder
|
Uncertain significance (1) |
|
Nov 13, 2023 | RCV003902076.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024