ClinVar Genomic variation as it relates to human health
NM_003718.5(CDK13):c.645G>T (p.Glu215Asp)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Benign(1)
Uncertain significance(2); Benign(1)
criteria provided, conflicting classifications
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 | |||
CDK13 | Some evidence for dosage pathogenicity | Not yet evaluated |
GRCh38 GRCh37 |
656 | 778 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 13, 2021 | RCV002977311.1 | |
Uncertain significance (1) |
|
Oct 19, 2022 | RCV003395665.4 | |
Benign (1) |
|
Sep 29, 2023 | RCV003730326.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024