ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1798-1G>T

dbSNP: rs1555076948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576851 SCV001804115 likely pathogenic not provided 2019-07-23 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion of the actin-binding region and part of the myosin motor domain; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31541171)
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770847 SCV000902348 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2019-02-26 no assertion criteria provided case-control

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