ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2380+12del (rs28364538)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152926 SCV000202355 benign not specified 2014-03-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152926 SCV000301880 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384537 SCV000391036 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283123 SCV000391037 likely benign Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000283123 SCV000677225 benign Limb-girdle muscular dystrophy, type 2A 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000152926 SCV000729896 benign not specified 2018-03-05 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000283123 SCV000743940 likely benign Limb-girdle muscular dystrophy, type 2A 2014-10-09 criteria provided, single submitter clinical testing

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