ClinVar Miner

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

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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).
GeneDx RCV000587761 SCV000170431 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23299917, 12974739, 21310275, 15519027, 17560888, 23217326, 22763267, 23233322, 25637381, 22995991, 24055113, 23820649, 26332594, 30188508)
CSER _CC_NCGL, University of Washington RCV000148661 SCV000190385 likely benign Primary familial hypertrophic cardiomyopathy 2014-06-01 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000035409 SCV000203047 benign not specified 2014-01-07 criteria provided, single submitter clinical testing
Invitae RCV001081053 SCV000253164 benign Hypertrophic cardiomyopathy 2020-12-01 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
PreventionGenetics,PreventionGenetics RCV000035409 SCV000303185 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242061 SCV000319842 likely benign Cardiovascular phenotype 2018-06-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587761 SCV000696314 likely benign not provided 2016-01-14 criteria provided, single submitter clinical testing
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
Color Health, Inc RCV000776189 SCV000911318 likely benign Cardiomyopathy 2018-04-13 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852652 SCV000995357 benign Amyloidogenic transthyretin amyloidosis 2019-05-20 criteria provided, single submitter clinical testing
Mendelics RCV000490352 SCV001138303 benign Familial hypertrophic cardiomyopathy 4 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000587761 SCV001249485 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000776189 SCV001333616 benign Cardiomyopathy 2018-12-14 criteria provided, single submitter clinical testing

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