ClinVar Miner

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

gnomAD frequency: 0.76381  dbSNP: rs2241827
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078087 SCV000109925 benign not specified 2012-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078087 SCV000301869 benign not specified 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.
Genome-Nilou Lab RCV001526794 SCV001737408 benign Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526795 SCV001737409 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-06-10 criteria provided, single submitter clinical testing

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