ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) (rs3729953)

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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 RCV000248052 SCV000317565 benign Cardiovascular phenotype 2015-06-16 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
Color RCV000776012 SCV000910554 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000616265 SCV000744838 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616265 SCV000733039 benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000616265 SCV000743551 benign Familial hypertrophic cardiomyopathy 4 2014-10-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288176 SCV000372334 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346286 SCV000372335 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406634 SCV000372336 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000346286 SCV000558152 benign Hypertrophic cardiomyopathy 2017-08-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035506 SCV000059156 benign not specified 2006-10-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000035506 SCV000303189 benign not specified criteria provided, single submitter clinical testing

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