ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1(chr7:5268201-5803877)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 | |||
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
548 | 598 | |
FBXL18 | - | - |
GRCh38 GRCh37 |
47 | 99 | |
FSCN1 | - | - |
GRCh38 GRCh37 |
24 | 76 | |
RNF216 | - | - |
GRCh38 GRCh37 |
272 | 336 | |
SLC29A4 | - | - |
GRCh38 GRCh37 |
88 | 141 | |
TNRC18 | - | - | - |
GRCh38 GRCh37 |
528 | 586 |
WIPI2 | - | - |
GRCh38 GRCh37 |
42 | 93 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 5, 2015 | RCV000510522.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024