ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.632+8A>G

dbSNP: rs2053447422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278219 SCV001682391 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-08-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278219 SCV001465215 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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