ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q22.1(chr3:129946771-130672255)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 | |||
COL6A5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
196 | 212 | |
ATP2C1 | - | - |
GRCh38 GRCh37 |
216 | 240 | |
COL6A6 | - | - |
GRCh38 GRCh37 |
218 | 234 | |
PIK3R4 | - | - |
GRCh38 GRCh37 |
68 | 82 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 2, 2019 | RCV001259231.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022