ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.897C>A (p.Leu299=)

gnomAD frequency: 0.00013  dbSNP: rs370313391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728177 SCV000855720 uncertain significance not provided 2018-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080817 SCV001020037 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-14 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001080817 SCV001736813 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080817 SCV001456720 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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