ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)

gnomAD frequency: 0.00002  dbSNP: rs367855757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704745 SCV000833707 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411643 SCV004136423 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CAPN3: BP4, BP7
Natera, Inc. RCV000704745 SCV002085512 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 no assertion criteria provided clinical testing

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