ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) (rs727503328)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151504 SCV000199591 uncertain significance not specified 2014-02-20 criteria provided, single submitter clinical testing The Ala1286Thr variant in MYO7A has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, additional information is needed to determine the clinical significance of this variant.
Counsyl RCV000666382 SCV000790663 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-04-03 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073912 SCV001239477 uncertain significance Retinal dystrophy 2018-06-18 criteria provided, single submitter clinical testing

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