ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)

gnomAD frequency: 0.00001  dbSNP: rs766405190
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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) RCV000730715 SCV000858476 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001278229 SCV001684402 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-08-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278229 SCV001465227 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535838 SCV004723444 likely benign CAPN3-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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