ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.*134C>T (rs3098423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000259632 SCV000340084 benign not specified 2016-04-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401564 SCV000391045 benign Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312848 SCV000391046 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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