ClinVar Genomic variation as it relates to human health
NM_014921.5(ADGRL1):c.532C>T (p.Arg178Cys)
Germline
Classification
(2)
Uncertain significance
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 | |||
ADGRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 151 | |
ADGRL1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 134 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 6, 2022 | RCV002708680.2 | |
Uncertain significance (1) |
|
Sep 1, 2023 | RCV003410237.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024