ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.468C>T (p.Ile156=)

dbSNP: rs143942248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698499 SCV000732771 likely benign not provided 2019-10-21 criteria provided, single submitter clinical testing
Invitae RCV001395030 SCV001596729 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV001698499 SCV003828903 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing

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