ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1355-9_1745+11del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV005232581 SCV005873553 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-09-18 no assertion criteria provided clinical testing

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