ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1746-7C>G

gnomAD frequency: 0.00051  dbSNP: rs199978708
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000382613 SCV000335930 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084708 SCV000645481 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000382613 SCV001247176 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CAPN3: BP4
GeneDx RCV000382613 SCV001783197 likely benign not provided 2018-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001084708 SCV001460841 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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