ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2149-5C>T (rs36211722)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035467 SCV000059115 likely benign not specified 2012-08-21 criteria provided, single submitter clinical testing 2149-5C>T in intron 22 of MYBPC3: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 2/120 Columbian chromosomes from a broad population by th e 1000 Genomes project and in 3% (9/300) of Indian chromosomes from a population that included both unaffected individuals and individuals with HCM (dbSNP rs362 11722).
Invitae RCV000227580 SCV000284220 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244185 SCV000318371 likely benign Cardiovascular phenotype 2018-11-29 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000625024 SCV000372341 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 RCV000260943 SCV000372342 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 RCV000625024 SCV000743557 likely benign Familial hypertrophic cardiomyopathy 4 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625024 SCV000744846 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000771142 SCV000902952 benign Cardiomyopathy 2018-06-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171654 SCV001334455 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143913 SCV000188786 likely benign Primary familial hypertrophic cardiomyopathy 2014-02-11 no assertion criteria provided clinical testing

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