ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2149-8C>G (rs397515950)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000035468 SCV000170436 benign not specified 2011-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035468 SCV000059116 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing The c.2149-8C>G variant in MYBPC3 has been previously identified by our laborato ry in 3 families with HCM; however, two affected siblings from one family carrie d a clinically significant variant in another gene that was sufficient to explai n their disease. The c.2149-8C>G variant has also been identified in 4/11426 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa; rs397515950). This variant is located in the 3' splice region. C omputational tools do not suggest an impact to splicing. However, this informati on is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.2149-8C>G variant is uncertain.

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