ClinVar Genomic variation as it relates to human health
NM_003579.4(RAD54L):c.2109G>C (p.Leu703=)
Germline
Classification
(1)
Likely benign
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 | |||
LRRC41 | - | - |
GRCh38 GRCh37 |
47 | 235 | |
RAD54L | - | - |
GRCh38 GRCh37 |
818 | 1006 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 10, 2022 | RCV004060355.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024