ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.2430-4C>A (rs376527296)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245182 SCV000319588 uncertain significance Cardiovascular phenotype 2015-04-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign),Insufficient or conflicting evidence
Invitae RCV000461069 SCV000557882 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000601013 SCV000717471 likely benign not specified 2017-03-23 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769417 SCV000900810 likely benign Cardiomyopathy 2017-08-08 criteria provided, single submitter clinical testing

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