ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=)

gnomAD frequency: 0.01438  dbSNP: rs11570097
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035513 SCV000059163 benign not specified 2010-07-08 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. In additio n, this variant has been identified in 3.3% of the Black population (dbSNP:rs115 70097). In summary, this variant is highly likely to be benign.
PreventionGenetics, part of Exact Sciences RCV000035513 SCV000303190 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000241950 SCV000318820 benign Cardiovascular phenotype 2015-09-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina RCV000610327 SCV000372331 likely benign 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 Laboratory Services, Illumina RCV000341874 SCV000372332 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.
Invitae RCV000284482 SCV000558142 benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000610327 SCV000743550 benign Hypertrophic cardiomyopathy 4 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000610327 SCV000744837 benign Hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776148 SCV000911147 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845450 SCV000987535 benign not provided criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000845450 SCV001471622 benign not provided 2022-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000845450 SCV001940797 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000610327 SCV000733038 benign Hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000845450 SCV001797584 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000035513 SCV001918124 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000035513 SCV001958681 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000284482 SCV003800603 benign Hypertrophic cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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