ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)

gnomAD frequency: 0.00001  dbSNP: rs755010088
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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 RCV001278234 SCV001641596 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584872 SCV005075719 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CAPN3: BP4, BP7
Natera, Inc. RCV001278234 SCV001465232 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-08-14 no assertion criteria provided clinical testing

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