ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) (rs28364364)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711022 SCV000841340 benign not provided 2018-03-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078101 SCV000109939 benign not specified 2012-08-24 criteria provided, single submitter clinical testing
GeneDx RCV000078101 SCV000523830 benign not specified 2016-07-27 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.
Genetic Services Laboratory, University of Chicago RCV000078101 SCV000150501 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000314855 SCV000390986 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362522 SCV000390987 uncertain significance Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000362522 SCV000645509 benign Limb-girdle muscular dystrophy, type 2A 2017-12-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078101 SCV000301895 benign not specified criteria provided, single submitter clinical testing

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