ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2308+12C>T (rs727505335)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625308 SCV000744842 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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;

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