ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) (rs748080151)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724417 SCV000230499 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214220 SCV000272156 uncertain significance not specified 2015-02-20 criteria provided, single submitter clinical testing The p.Arg1832Trp variant in MYO7A has not been previously reported in individual s with hearing loss but has been identified in 1/12192 of European chromosomes b y the Exome Aggregation Consortium (ExAC, Altho ugh this variant has been seen in the general population, its frequency is not h igh enough to rule out a pathogenic role. Computational prediction tools and con servation analyses suggest that the p.Arg1832Trp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg1832Trp variant is uncertain.
Counsyl RCV000667801 SCV000792305 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-06-21 criteria provided, single submitter clinical testing

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