ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q12.3(chr5:63827760-64499916)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 | |||
ADAMTS6 | - | - |
GRCh38 GRCh37 |
54 | 74 | |
CWC27 | - | - |
GRCh38 GRCh37 |
341 | 367 | |
RGS7BP | - | - |
GRCh38 GRCh37 |
10 | 21 | |
SHISAL2B | - | - | - |
GRCh38 GRCh37 |
18 | 30 |
SREK1IP1 | - | - | - |
GRCh38 GRCh37 |
4 | 18 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 25, 2019 | RCV001258856.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022