ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) (rs1224881006)

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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 RCV000614683 SCV000712630 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing The p.Leu750Phe variant in MYO7A has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Leu750Phe vari ant is uncertain.

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