ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p14.3(chr7:29751912-30452918)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 | |||
FKBP14 | - | - |
GRCh38 GRCh37 |
2 | 239 | |
MTURN | - | - |
GRCh38 GRCh37 |
4 | 30 | |
PLEKHA8 | - | - |
GRCh38 GRCh37 |
26 | 54 | |
SCRN1 | - | - |
GRCh38 GRCh37 |
26 | 52 | |
WIPF3 | - | - |
GRCh38 GRCh37 |
43 | 69 | |
ZNRF2 | - | - |
GRCh38 GRCh37 |
2 | 41 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 16, 2014 | RCV000511864.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024