ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.31(chr3:47069054-47468261)x3
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 | |||
SETD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1115 | 1148 | |
KIF9 | - | - |
GRCh38 GRCh37 |
26 | 61 | |
KLHL18 | - | - |
GRCh38 GRCh37 |
25 | 43 | |
PTPN23 | - | - |
GRCh38 GRCh37 |
1326 | 1358 | |
SCAP | - | - |
GRCh38 GRCh37 |
102 | 114 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 10, 2016 | RCV000598871.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022