ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2433T>C (p.Val811=) (rs28364543)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711018 SCV000841336 benign not provided 2017-12-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152927 SCV000202356 benign not specified 2014-03-14 criteria provided, single submitter clinical testing
GeneDx RCV000152927 SCV000526849 benign not specified 2016-08-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000281259 SCV000391043 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338574 SCV000391044 uncertain significance Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000338574 SCV000645490 benign Limb-girdle muscular dystrophy, type 2A 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152927 SCV000301882 benign not specified criteria provided, single submitter clinical testing

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