ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q22.1(chr7:102333441-102969517)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
ARMC10 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 42 | |
DNAJC2 | - | - |
GRCh38 GRCh37 |
- | 57 | |
FAM185A | - | - | - |
GRCh38 GRCh37 |
19 | 49 |
FBXL13 | - | - |
GRCh38 GRCh37 |
29 | 81 | |
LRRC17 | - | - |
GRCh38 GRCh37 |
- | 42 | |
NAPEPLD | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 51 | |
NFE4 | - | - |
GRCh38 GRCh37 |
- | 20 | |
PMPCB | - | - |
GRCh38 GRCh37 |
109 | 176 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 25, 2019 | RCV001005989.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022