ClinVar Genomic variation as it relates to human health
NM_001363.5(DKC1):c.1240C>G (p.Gln414Glu)
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 | |||
DKC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
459 | 669 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 15, 2022 | RCV003154608.1 | |
Uncertain significance (1) |
|
Feb 6, 2020 | RCV003447648.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2023