ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) (rs765895405)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000168901 SCV000270459 likely benign not specified 2015-08-13 criteria provided, single submitter clinical testing p.Ala1394Ala in exon 31 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 11/66390 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724906 SCV000332313 uncertain significance not provided 2015-06-23 criteria provided, single submitter clinical testing
Invitae RCV000629082 SCV000749995 likely benign Hypertrophic cardiomyopathy 2020-10-29 criteria provided, single submitter clinical testing
Color Health, Inc RCV001176807 SCV001340865 likely benign Cardiomyopathy 2018-11-03 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000168901 SCV001433098 likely benign not specified 2019-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000724906 SCV001844019 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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