ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)

dbSNP: rs770894443
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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 RCV001278233 SCV004535303 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-09-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278233 SCV001465231 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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