ClinVar Genomic variation as it relates to human health
NM_005505.5(SCARB1):c.228C>T (p.Ser76=)
Germline
Classification
(2)
Benign/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 | |||
SCARB1 | - | - |
GRCh38 GRCh37 |
130 | 170 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Apr 30, 2023 | RCV003580780.1 | |
SCARB1-related disorder
|
Likely benign (1) |
|
Dec 15, 2023 | RCV003956444.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024