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
Ambry Genetics RCV000244185 SCV000318371 likely benign Cardiovascular phenotype 2015-10-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Other data supporting benign classification
Blueprint Genetics, RCV000143913 SCV000188786 likely benign Primary familial hypertrophic cardiomyopathy 2014-02-11 no assertion criteria provided clinical testing
Color RCV000771142 SCV000902952 benign Cardiomyopathy 2018-06-18 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
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625024 SCV000743557 likely benign Familial hypertrophic cardiomyopathy 4 2017-07-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314866 SCV000372340 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227580 SCV000372341 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260943 SCV000372342 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227580 SCV000284220 benign Hypertrophic cardiomyopathy 2017-12-20 criteria provided, single submitter clinical testing
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).

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