ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q22.1(chr7:98373794-98676268)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 | |||
TRRAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1629 | 1701 | |
SMURF1 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 50 | |
TMEM130 | - | - | - |
GRCh38 GRCh37 |
22 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 10, 2017 | RCV000847858.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022