ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.50G>A (p.Arg17His) (rs727503280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151316 SCV000199281 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing The Arg17His variant in MYH7 has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, thou gh this information is not predictive enough to determine pathogenicity. Additio nal information is needed to fully assess the clinical significance of the Arg17 His variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093026 SCV001249815 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Color RCV001185781 SCV001352072 uncertain significance Cardiomyopathy 2020-02-18 criteria provided, single submitter clinical testing

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