ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3609C>G (p.Ala1203=) (rs149369904)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037480 SCV000061138 benign not specified 2012-04-03 criteria provided, single submitter clinical testing
Invitae RCV000225959 SCV000287411 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253986 SCV000318170 benign Cardiovascular phenotype 2015-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000320300 SCV000385648 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374941 SCV000385649 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282619 SCV000385650 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000037480 SCV000515391 benign not specified 2016-11-21 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 RCV000769415 SCV000900808 benign Cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing

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