ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.383-11A>T (rs727504584)

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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 RCV000155757 SCV000205468 uncertain significance not specified 2013-05-01 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 383-11A>T varia nt in SGCD has not been reported in individuals with cardiomyopathy. Data from l arge population studies is insufficient to assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not sug gest an impact to splicing, though this information is not predictive enough to rule out pathogenicity. Additional studies are needed to fully assess its clinic al significance.
GeneDx RCV000155757 SCV000725821 likely benign not specified 2017-12-27 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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