ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2309-21G>A

dbSNP: rs727505287
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Total submissions: 1
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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 RCV000156816 SCV000206537 uncertain significance not specified 2014-10-10 criteria provided, single submitter clinical testing The 2309-21G>A variant in MYBPC3 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do suggest an impact to splicing; howe ver, this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of this variant is uncertain.

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