ClinVar Genomic variation as it relates to human health
NM_001038603.3(MARVELD2):c.1331+4_1331+7del
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 | |||
MARVELD2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
188 | 206 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 1, 2006 | RCV000001255.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022
ClinGen staff contributed the HGVS expression for this variant.