ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1975-6C>A (rs201255023)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156378 SCV000206096 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing The 1975-6C>A variant in ACTN2 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This variant is located in th e 3' splice region. Computational tools do not suggest an impact to splicing; ho wever, this information is not predictive enough to rule out pathogenicity. Addi tional information is needed to fully assess the clinical significance of the 19 75-6C>A variant.
GeneDx RCV000156378 SCV000534189 likely benign not specified 2016-11-23 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.

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