ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p13.2(chr5:36960223-37813255)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 | |||
NIPBL | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1789 | 1843 | |
CPLANE1 | - | - |
GRCh38 GRCh37 |
2068 | 2182 | |
GDNF | - | - |
GRCh38 GRCh37 |
115 | 140 | |
NUP155 | - | - |
GRCh38 GRCh37 |
137 | 208 | |
WDR70 | - | - |
GRCh38 GRCh37 |
37 | 86 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 30, 2019 | RCV001258678.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022