ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1029+3A>G

gnomAD frequency: 0.03285  dbSNP: rs28364442
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078085 SCV000109923 benign not specified 2012-08-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078085 SCV000301862 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353930 SCV000391010 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078085 SCV000517085 benign not specified 2016-02-11 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514496 SCV000609916 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084335 SCV000645460 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000514496 SCV000841329 benign not provided 2017-04-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084335 SCV001277570 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago RCV000078085 SCV000150491 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.
Natera, Inc. RCV001084335 SCV002085496 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-25 no assertion criteria provided clinical testing

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