ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p13.2(chr5:37027159-37673405)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 | |||
NIPBL | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1748 | 1799 | |
CPLANE1 | - | - |
GRCh38 GRCh37 |
2058 | 2169 | |
NUP155 | - | - |
GRCh38 GRCh37 |
125 | 194 | |
WDR70 | - | - |
GRCh38 GRCh37 |
31 | 80 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986600.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024