ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q14.1(chr11:82618269-83454773)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 | |||
DLG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
76 | 113 | |
ANKRD42 | - | - |
GRCh38 GRCh37 |
28 | 46 | |
CCDC90B | - | - | - |
GRCh38 GRCh37 |
21 | 38 |
DDIAS | - | - |
GRCh38 GRCh37 |
41 | 55 | |
PCF11 | - | - |
GRCh38 GRCh37 |
50 | 80 | |
RAB30 | - | - |
GRCh38 GRCh37 |
6 | 22 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 8, 2020 | RCV001260136.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022