ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) (rs797044493)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151499 SCV000199577 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing The Arg830Cys variant in MYO7A has not been previously reported in individuals w ith hearing loss and data from large population studies is insufficient to asses s the frequency of this variant. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this informat ion is not predictive enough to determine pathogenicity. In summary, the clinica l significance of the Arg830Cys variant is uncertain.
Counsyl RCV000670096 SCV000794912 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-10-19 criteria provided, single submitter clinical testing

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