ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) (rs200454015)

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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 RCV000036091 SCV000059743 likely benign not specified 2012-02-09 criteria provided, single submitter clinical testing p.Arg873Trp in exon 22 of MYO7A: This variant has been reported in 4 individual s with sensorineural hearing loss or Usher syndrome; however, none of these indi viduals had a second MYO7A variant (Saihan 2011, Kothiyal 2010, Strike 2008). Th is variant has also been identified in 0.2% (141/62260) of European chromosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC,; dbSNP rs200454015). Based upon identification in 0.2% of contr ols and not identifying a second MYO7A variant in any affected individuals, this variant is likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724180 SCV000227878 uncertain significance not provided 2014-10-16 criteria provided, single submitter clinical testing

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