ClinVar Genomic variation as it relates to human health
NC_000016.8:g.(21419562_?)_(?_21746863)del
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 | |||
OTOA | - | - |
GRCh38 GRCh38 GRCh37 |
642 | 760 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2010 | RCV000003742.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023
NCBI staff provided an HGVS expression for the deletion reported in OMIM allelic variant 607038.0002 from the locations of the inner boundaries of the segmental duplications (chromosome 16, NCBI36, NC_000016.8) reported in the paper by Shahin et al., 2010 (PubMed 19888295) as a likely site for nonallelic homologous recombination.