ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1355-6G>A

gnomAD frequency: 0.01593  dbSNP: rs28364485
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116539 SCV000301867 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357242 SCV000391013 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000274295 SCV000391014 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000116539 SCV000527286 benign not specified 2016-08-09 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.
Invitae RCV000357242 SCV000645471 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116539 SCV000150492 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.

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