ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.183C>T (p.Phe61=)

gnomAD frequency: 0.00004  dbSNP: rs146069933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000283954 SCV000339306 uncertain significance not provided 2016-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088907 SCV000645483 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543074 SCV004764268 likely benign CAPN3-related disorder 2019-11-18 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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