ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.1(chr3:52783975-53418893)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 | |||
DCP1A | - | - |
GRCh38 GRCh37 |
31 | 43 | |
ITIH1 | - | - |
GRCh38 GRCh37 |
72 | 100 | |
ITIH3 | - | - |
GRCh38 GRCh37 |
68 | 81 | |
ITIH4 | - | - |
GRCh38 GRCh37 |
71 | 98 | |
MUSTN1 | - | - |
GRCh38 GRCh37 |
- | 15 | |
NEK4 | - | - |
GRCh38 GRCh37 |
48 | 61 | |
PRKCD | - | - |
GRCh38 GRCh37 |
469 | 526 | |
RFT1 | - | - |
GRCh38 GRCh37 |
506 | 557 | |
SFMBT1 | - | - |
GRCh38 GRCh37 |
7 | 20 | |
STIMATE | - | - |
GRCh38 GRCh37 |
- | 12 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 8, 2022 | RCV002473863.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022