ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2040C>T (p.Val680=)

gnomAD frequency: 0.00004  dbSNP: rs200583904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591037 SCV000706743 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV001079051 SCV001038831 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079051 SCV001460844 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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