ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) (rs762258869)

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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 RCV000221469 SCV000272158 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing The p.Arg2031Gln variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/18592 Europe an chromosomes and 1/2270 East Asian chromosomes by the Exome Aggregation Consor tium (ExAC, Computational prediction tools do n ot provide strong support for or against an impact to the protein. In summary, t he clinical significance of the p.Arg2031Gln variant is uncertain.
Counsyl RCV000664976 SCV000789022 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2016-12-28 criteria provided, single submitter clinical testing

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