ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)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 | |||
ARL4A | - | - |
GRCh38 GRCh37 |
5 | 42 | |
DGKB | - | - |
GRCh38 GRCh37 |
32 | 80 | |
ETV1 | - | - |
GRCh38 GRCh37 |
28 | 66 | |
NDUFA4 | - | - |
GRCh38 GRCh37 |
57 | 100 | |
PHF14 | - | - |
GRCh38 GRCh37 |
33 | 80 | |
SCIN | - | - |
GRCh38 GRCh37 |
53 | 100 | |
THSD7A | - | - |
GRCh38 GRCh37 |
147 | 190 | |
TMEM106B | - | - |
GRCh38 GRCh37 |
94 | 134 | |
VWDE | - | - | - |
GRCh38 GRCh37 |
112 | 157 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 1, 2023 | RCV003327276.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024