ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1731T>C (p.Pro577=)

gnomAD frequency: 0.00041  dbSNP: rs148182019
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487551 SCV001692042 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820186 SCV002069500 likely benign not specified 2021-11-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501674 SCV002808455 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948422 SCV004760275 likely benign C3-related disorder 2019-04-10 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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