ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2409A>T (p.Gly803=)

dbSNP: rs143139259
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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) RCV000176354 SCV000227995 uncertain significance not provided 2015-04-01 criteria provided, single submitter clinical testing
Invitae RCV002517696 SCV002959136 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-03-12 criteria provided, single submitter clinical testing

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