ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2115+2T>C

dbSNP: rs1555423060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592820 SCV000701856 pathogenic not provided 2016-11-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459463 SCV004213774 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-05-13 flagged submission clinical testing

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