ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1674C>G (p.Pro558=)

dbSNP: rs1205096877
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983451 SCV001131473 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-01-05 criteria provided, single submitter clinical testing

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