ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.78G>A (p.Pro26=) (rs62642519)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116546 SCV000523832 benign not specified 2016-03-24 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 RCV000116546 SCV000150503 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 RCV000270251 SCV000390988 likely benign Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308855 SCV000390989 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000270251 SCV000645514 benign Limb-girdle muscular dystrophy, type 2A 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116546 SCV000301898 benign not specified criteria provided, single submitter clinical testing

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