ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p25.3(chr3:9754611-10295828)
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 | |||
VHL | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
823 | 1986 | |
ARPC4 | - | - |
GRCh38 GRCh37 |
- | 64 | |
ARPC4-TTLL3 | - | - | - |
GRCh38 GRCh37 |
- | 153 |
BRK1 | - | - |
GRCh38 GRCh37 |
25 | 168 | |
BRPF1 | - | - |
GRCh38 GRCh37 |
309 | 369 | |
CAMK1 | - | - |
GRCh38 GRCh37 |
- | 80 | |
CIDEC | - | - |
GRCh38 GRCh37 |
44 | 109 | |
CPNE9 | - | - | - |
GRCh38 GRCh37 |
26 | 88 |
CRELD1 | - | - |
GRCh38 GRCh37 |
150 | 216 | |
EMC3 | - | - | - |
GRCh38 GRCh37 |
6 | 65 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053329.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022