ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) (rs3218719)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035635 SCV000059286 benign not specified 2008-01-18 criteria provided, single submitter clinical testing
Invitae RCV000204536 SCV000262070 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035635 SCV000303197 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249330 SCV000317937 benign Cardiovascular phenotype 2015-06-15 criteria provided, single submitter clinical testing 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 RCV000614213 SCV000372404 likely benign Familial hypertrophic cardiomyopathy 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000275259 SCV000372405 benign Left ventricular noncompaction 10 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000614213 SCV000743581 benign Familial hypertrophic cardiomyopathy 4 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000614213 SCV000744878 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000776017 SCV000910573 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035635 SCV001433071 benign not specified 2020-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614213 SCV000733073 benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing

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