ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) (rs397516321)

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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 RCV000036196 SCV000059848 pathogenic Rare genetic deafness 2011-03-09 criteria provided, single submitter clinical testing The Arg1873Trp variant in MYO7A has been reported in five probands with Usher sy ndrome type 1 and has not been identified in 1176 control chromosomes (Roux 2006 , Baux 2008-unpublished data). All of these probands were homozygous or compound heterozygous. In summary, this variant meets our criteria to be classified as p athogenic.
Counsyl RCV000668897 SCV000793571 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-08-18 criteria provided, single submitter clinical testing

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