ClinVar Genomic variation as it relates to human health
NM_001765.3(CD1C):c.16T>C (p.Phe6Leu)
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 | |||
CD1B | - | - |
GRCh38 GRCh37 |
23 | 63 | |
CD1C | - | - |
GRCh38 GRCh37 |
- | 40 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 17, 2023 | RCV004321376.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024