ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)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 | |||
APH1B | - | - |
GRCh38 GRCh37 |
8 | 24 | |
CA12 | - | - |
GRCh38 GRCh37 |
73 | 87 | |
RAB8B | - | - |
GRCh38 GRCh37 |
8 | 21 | |
USP3 | - | - |
GRCh38 GRCh37 |
19 | 41 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 19, 2018 | RCV001006703.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022