ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)

gnomAD frequency: 0.22326  dbSNP: rs1801449
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000078102 SCV000109940 benign not specified 2015-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000078102 SCV000150502 benign not specified 2013-09-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000078102 SCV000268829 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Ala236Thr in exon 5 of CAPN3: This variant is not expected to have clinical si gnificance because it has been identified in 62% (2737/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs1801449).
PreventionGenetics,PreventionGenetics RCV000078102 SCV000301896 benign not specified 2016-02-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000346923 SCV000391004 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services,Illumina RCV000399161 SCV000391005 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000078102 SCV000518448 benign not specified 2016-01-14 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.
Athena Diagnostics Inc RCV000710095 SCV000677227 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000346923 SCV000743939 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2014-10-09 criteria provided, single submitter clinical testing
Mendelics RCV000346923 SCV001139558 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000346923 SCV001728094 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001526791 SCV001737404 benign Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000346923 SCV001737405 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-06-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078102 SCV002050844 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000346923 SCV001454325 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078102 SCV001925507 benign not specified no assertion criteria provided clinical testing

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