ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2308+12C>T

gnomAD frequency: 0.00003  dbSNP: rs727505335
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Total submissions: 4
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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 RCV000156885 SCV000206606 likely benign not specified 2014-11-05 criteria provided, single submitter clinical testing c.2308+12C>T in intron 23 of MYBPC3: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. It has been identified in 2/16,584 South Asian chromosomes by the Exome Aggregat ion Consortium (ExAC; http://exac.broadinstitute.org).
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625308 SCV000744842 benign Hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV002515039 SCV002943620 likely benign Hypertrophic cardiomyopathy 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000156885 SCV001921368 benign not specified no assertion criteria provided clinical testing

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