ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3573C>T (p.Ala1191=) (rs727505358)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249483 SCV000320307 likely benign Cardiovascular phenotype 2015-11-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769416 SCV000900809 benign Cardiomyopathy 2017-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000156920 SCV000731194 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000466529 SCV000557897 benign Familial hypertrophic cardiomyopathy 14 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156920 SCV000206641 likely benign not specified 2014-12-11 criteria provided, single submitter clinical testing p.Ala1191Ala in exon 26 of MYH6: 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 0.1% (53/49738) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org).

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