ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.1(chr3:52968525-53450333)
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 | |||
DCP1A | - | - |
GRCh38 GRCh37 |
31 | 43 | |
PRKCD | - | - |
GRCh38 GRCh37 |
469 | 526 | |
RFT1 | - | - |
GRCh38 GRCh37 |
506 | 557 | |
SFMBT1 | - | - |
GRCh38 GRCh37 |
7 | 20 | |
TKT | - | - |
GRCh38 GRCh37 |
68 | 96 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053351.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022