ClinVar Genomic variation as it relates to human health
NM_005732.4(RAD50):c.3748G>C (p.Val1250Leu)
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 | |||
RAD50 | - | - |
GRCh38 GRCh37 |
3780 | 4477 | |
TH2-LCR | - | - | - | GRCh38 | - | 502 |
TH2LCRR | - | - | - | GRCh38 | - | 685 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 20, 2023 | RCV003585599.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024