ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q32(chr5:146046054-147156861)x1
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 | |||
DPYSL3 | - | - |
GRCh38 GRCh37 |
18 | 50 | |
JAKMIP2 | - | - |
GRCh38 GRCh37 |
1 | 40 | |
PPP2R2B | - | - |
GRCh38 GRCh37 |
33 | 81 | |
STK32A | - | - | - |
GRCh38 GRCh37 |
34 | 66 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 14, 2023 | RCV003485483.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024