ClinVar Genomic variation as it relates to human health
NM_001352514.2(HLCS):c.27C>T (p.Tyr9=)
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 | |||
HLCS | - | - |
GRCh38 GRCh37 |
959 | 1050 | |
HLCS-AS1 | - | - | - | GRCh38 | - | 46 |
LOC130066637 | - | - | - | GRCh38 | - | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
HLCS-related disorder
|
Likely benign (1) |
|
May 16, 2019 | RCV003917290.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024