ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q23.2(chr5:126002101-126341594)x3
Germline
Classification
(1)
Pathogenic
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 | |||
LMNB1 | No evidence available | Sufficient evidence for dosage pathogenicity |
GRCh38 GRCh37 |
234 | 271 | |
MARCHF3 | - | - |
GRCh38 GRCh37 |
18 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 2, 2015 | RCV000511066.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024