ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p21.31(chr3:47720958-48490193)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 | |||
ATRIP | - | - |
GRCh38 GRCh37 |
1 | 780 | |
CAMP | - | - |
GRCh38 GRCh37 |
4 | 16 | |
CCDC51 | - | - |
GRCh38 GRCh37 |
13 | 40 | |
CDC25A | - | - |
GRCh38 GRCh37 |
31 | 46 | |
DHX30 | - | - |
GRCh38 GRCh37 |
177 | 189 | |
FBXW12 | - | - |
GRCh38 GRCh37 |
28 | 38 | |
MAP4 | - | - |
GRCh38 GRCh37 |
99 | 115 | |
NME6 | - | - |
GRCh38 GRCh37 |
10 | 22 | |
PLXNB1 | - | - |
GRCh38 GRCh37 |
169 | 180 | |
SMARCC1 | - | - |
GRCh38 GRCh37 |
78 | 91 |
There are 3 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) |
|
Sep 30, 2022 | RCV003484129.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024