ClinVar Genomic variation as it relates to human health
NM_139248.3(LIPH):c.852C>T (p.Cys284=)
Germline
Classification
(2)
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 | |||
LIPH | - | - |
GRCh38 GRCh37 |
80 | 127 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 22, 2024 | RCV002846581.3 | |
LIPH-related disorder
|
Benign (1) |
|
Jul 8, 2019 | RCV003973499.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024