ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5600C>T (p.Ala1867Val)

dbSNP: rs876657914
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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, Mass General Brigham Personalized Medicine RCV000217181 SCV000272157 uncertain significance not specified 2015-01-26 criteria provided, single submitter clinical testing The p.Ala1867Val variant in MYO7A has not been previously reported in individual s with hearing loss or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Ala1867Val va riant is uncertain.

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