ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1194-26C>G

gnomAD frequency: 0.13055  dbSNP: rs3743003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244800 SCV000301864 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000837853 SCV000979715 benign not provided 2018-06-18 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.
Genome-Nilou Lab RCV001526792 SCV001737406 benign Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526793 SCV001737407 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-06-10 criteria provided, single submitter clinical testing

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