ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p13.2(chr5:37158123-37591118)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
CPLANE1 | - | - |
GRCh38 GRCh37 |
2063 | 2177 | |
NUP155 | - | - |
GRCh38 GRCh37 |
135 | 206 | |
WDR70 | - | - |
GRCh38 GRCh37 |
37 | 86 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 28, 2018 | RCV001007439.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022