ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.270C>T (p.Ser90=)

gnomAD frequency: 0.00002  dbSNP: rs753686702
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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 RCV001088598 SCV000645498 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-11-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729694 SCV000857380 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing

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