ClinVar Genomic variation as it relates to human health
NM_020812.4(DOCK6):c.5466C>G (p.Ile1822Met)
Germline
Classification
(1)
Uncertain significance
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 | |||
DOCK6 | - | - |
GRCh38 GRCh37 |
910 | 1310 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
DOCK6-related disorder
|
Uncertain significance (1) |
|
Feb 29, 2024 | RCV003982679.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024