ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:36473175-36567469)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 | |||
ARHGAP23 | - | - |
GRCh38 GRCh38 GRCh37 |
128 | 135 | |
GPR179 | - | - |
GRCh38 GRCh38 GRCh37 |
1295 | 1304 | |
MRPL45 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 39 | |
SOCS7 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 31 | |
TBC1D3 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 32 | |
TBC1D3F | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 14, 2020 | RCV001250262.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023