ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)

gnomAD frequency: 0.00006  dbSNP: rs188108732
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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 RCV000981700 SCV001129687 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000981700 SCV001456717 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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