ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
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 | |||
ARL6 | - | - |
GRCh38 GRCh37 |
248 | 272 | |
CRYBG3 | - | - |
GRCh38 GRCh37 |
11 | 36 | |
LOC129937104 | - | - | - | GRCh38 | - | 8 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jul 20, 2016 | RCV000498722.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023