ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q31.2(chr1:192731793-193391298)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CDC73 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1597 | 1651 | |
B3GALT2 | - | - |
GRCh38 GRCh37 |
- | 51 | |
GLRX2 | - | - |
GRCh38 GRCh37 |
7 | 28 | |
RGS2 | - | - |
GRCh38 GRCh37 |
6 | 30 | |
RO60 | - | - |
GRCh38 GRCh37 |
40 | 60 | |
UCHL5 | - | - |
GRCh38 GRCh37 |
14 | 34 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053813.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022