ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) (rs1801449)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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,Partners HealthCare 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 Clinical Services Laboratory,Illumina RCV000346923 SCV000391004 benign Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Limb-girdle muscular dystrophy, type 2A 2014-10-09 criteria provided, single submitter clinical testing

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