ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) (rs797044513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155845 SCV000205556 pathogenic Rare genetic deafness 2013-05-13 criteria provided, single submitter clinical testing The Tyr1188X variant in MYO7A has not been reported in individuals with hearing loss or in large population databases. This variant is predicted to result in a premature termination codon at position 1188, which would lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified a s pathogenic (

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