ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1801-10C>G

gnomAD frequency: 0.00001  dbSNP: rs200931166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001479715 SCV001684020 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-09-05 criteria provided, single submitter clinical testing

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