ClinVar Genomic variation as it relates to human health
hg19chr22:g.26995597_27074524dup
Germline
Classification
(1)
Likely pathogenic
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 | |||
CRYBA4 | - | - |
GRCh38 GRCh37 |
81 | 190 | |
CRYBB1 | - | - |
GRCh38 GRCh37 |
1 | 109 | |
MIAT | - | - |
GRCh38 GRCh37 |
13 | 42 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 11, 2016 | RCV000445358.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023