ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)

gnomAD frequency: 0.00006  dbSNP: rs534326487
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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 RCV000874872 SCV001017105 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704248 SCV005214523 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000874872 SCV001460834 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-02-13 no assertion criteria provided clinical testing

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