ClinVar Genomic variation as it relates to human health
NG_008197.2:g.(218402_271087)_(271804_315503)dup
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 | |||
MID1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
345 | 596 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2003 | RCV000011557.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 06, 2023
NCBI staff provided an HGVS expression for allelic variant 300552.0006 based on the interpretation that Winter et al., 2003 (PubMed 12545276) were describing duplication of the first coding exon.