ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q22.33(chr6:127499597-127593564)x1
Germline
Classification
(1)
Likely benign
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 | |||
RNF146 | - | - |
GRCh38 GRCh37 |
18 | 42 | |
RSPO3 | - | - |
GRCh38 GRCh37 |
12 | 37 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Apr 19, 2018 | RCV000682723.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022