ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.1989C>T (p.Asn663=) (rs28730774)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248032 SCV000318220 likely benign Cardiovascular phenotype 2015-05-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769420 SCV000900813 benign Cardiomyopathy 2016-03-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037451 SCV000226606 likely benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000037451 SCV000515440 benign not specified 2016-11-17 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 RCV000231283 SCV000287398 benign Familial hypertrophic cardiomyopathy 14 2017-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037451 SCV000061109 benign not specified 2012-02-22 criteria provided, single submitter clinical testing Asn663Asn in exon 17 of MYH6: This variant is not expected to have clinical sign ificance because it does not change an amino acid residue and has been identifie d in 0.7% (51/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs28 730774).

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