ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)

gnomAD frequency: 0.00003  dbSNP: rs759384108
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000950979 SCV001097326 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960623 SCV004768348 likely benign CAPN3-related condition 2023-05-04 criteria provided, single submitter 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).
Natera, Inc. RCV000950979 SCV001456722 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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