ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.2561+1del

dbSNP: rs1852533572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001254600 SCV001430590 likely pathogenic Autosomal recessive nonsyndromic hearing loss 18B 2019-06-20 criteria provided, single submitter clinical testing
GeneDx RCV001819961 SCV002064194 likely pathogenic not provided 2022-01-14 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33223529)

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