ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2805C>T (p.Asn935=) (rs757958461)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770451 SCV000901894 likely benign Cardiomyopathy 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV000464537 SCV000557920 likely benign Familial hypertrophic cardiomyopathy 14 2016-06-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213711 SCV000270446 likely benign not specified 2015-02-26 criteria provided, single submitter clinical testing p.Asn935Asn in exon 22 of MYH6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/66740 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut

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