ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1194-9A>C

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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 RCV003516844 SCV004311496 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-06-06 criteria provided, single submitter clinical testing

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