ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.531C>T (p.Arg177=)

gnomAD frequency: 0.00012  dbSNP: rs368035400
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158065 SCV000208000 benign not specified 2014-04-14 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.
Invitae RCV000456567 SCV000558168 likely benign Hypertrophic cardiomyopathy 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620111 SCV000740214 likely benign Cardiovascular phenotype 2017-08-31 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000607586 SCV000744874 likely benign Hypertrophic cardiomyopathy 4 2017-06-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000607586 SCV001265821 uncertain significance Hypertrophic cardiomyopathy 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001108570 SCV001265822 likely benign Left ventricular noncompaction 10 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170214 SCV001332767 likely benign Cardiomyopathy 2022-07-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170214 SCV001347644 likely benign Cardiomyopathy 2018-11-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000456567 SCV004834768 likely benign Hypertrophic cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607586 SCV000733069 likely benign Hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000158065 SCV001921176 benign not specified no assertion criteria provided clinical testing

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