ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) (rs35736435)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242061 SCV000319842 likely benign Cardiovascular phenotype 2016-08-24 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148661 SCV000190385 likely benign Primary familial hypertrophic cardiomyopathy 2014-06-01 criteria provided, single submitter research
Color RCV000776189 SCV000911318 likely benign Cardiomyopathy 2018-04-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035409 SCV000203047 benign not specified 2014-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000035409 SCV000170431 likely benign not specified 2012-04-24 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.
Integrated Genetics/Laboratory Corporation of America RCV000587761 SCV000696314 likely benign not provided 2016-01-14 criteria provided, single submitter clinical testing
Invitae RCV000197248 SCV000253164 benign Hypertrophic cardiomyopathy 2017-11-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035409 SCV000059057 likely benign not specified 2015-06-12 criteria provided, single submitter clinical testing p.Gly507Arg in exon 17 of MYBPC3: This variant is not expected to have clinical significance because it has been identified in 0.6% (54/9808) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs35736435).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035409 SCV000740369 likely benign not specified 2017-07-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035409 SCV000303185 likely benign not specified criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490352 SCV000267407 uncertain significance Familial hypertrophic cardiomyopathy 4 2016-03-18 criteria provided, single submitter reference population

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