ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1537-48T>C (rs2241827)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078087 SCV000109925 benign not specified 2012-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000837854 SCV000979716 benign not provided 2018-06-14 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.
PreventionGenetics RCV000078087 SCV000301869 benign not specified criteria provided, single submitter clinical testing

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