ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.1(chr7:38728844-40069964)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
676 | 799 | |
POU6F2 | - | - |
GRCh38 GRCh37 |
85 | 114 | |
RALA | - | - |
GRCh38 GRCh37 |
87 | 113 | |
VPS41 | - | - |
GRCh38 GRCh37 |
108 | 135 | |
YAE1 | - | - | - |
GRCh38 GRCh37 |
12 | 38 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 3, 2020 | RCV001829056.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022