ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu) (rs565162134)

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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 RCV000600345 SCV000712233 uncertain significance not specified 2016-06-09 criteria provided, single submitter clinical testing The p.Arg920Leu variant in MYO7A has not been previously reported in individuals with hearing loss. This variant has been identified in 9/29234 European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs565162134). Computational prediction tools and conservation analyses sug gest that this variant may not impact the protein, though this information is no t predictive enough to rule out pathogenicity. In summary, the clinical signific ance of the p.Arg920Leu variant is uncertain.
Athena Diagnostics Inc RCV000992402 SCV001144661 uncertain significance not provided 2018-11-05 criteria provided, single submitter clinical testing

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