ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.240C>T (p.Asn80=) (rs200493975)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154777 SCV000170544 benign not specified 2015-07-01 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154777 SCV000204457 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Asn80Asn in exon 4 of MYH7: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS). Asn80Asn in exon 4 of MYH7 (allele frequency = 1/7020) **
Invitae RCV000232772 SCV000284262 likely benign not provided 2019-01-26 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769468 SCV000900863 likely benign Cardiomyopathy 2016-09-23 criteria provided, single submitter clinical testing
Color RCV000769468 SCV000911603 likely benign Cardiomyopathy 2018-07-10 criteria provided, single submitter clinical testing

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