ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1790G>A (p.Arg597His) (rs150911078)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172573 SCV000054739 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172573 SCV000225084 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000172573 SCV000236054 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000183585 SCV000270583 likely benign not specified 2015-05-06 criteria provided, single submitter clinical testing p.Arg597His in exon 11 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (44/10402) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs150911078).
Invitae RCV001087174 SCV000291111 benign Dilated cardiomyopathy 1KK 2020-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621697 SCV000735697 likely benign Cardiovascular phenotype 2017-12-26 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000172573 SCV000987494 likely benign not provided criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852610 SCV000995313 likely benign Cardiomyopathy 2019-01-22 criteria provided, single submitter clinical testing

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