ClinVar Miner

Submissions for variant NM_000064.4(C3):c.4791G>A (p.Glu1597=)

gnomAD frequency: 0.00021  dbSNP: rs149675330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413103 SCV001615209 likely benign not provided 2024-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499885 SCV002796789 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938705 SCV004751624 likely benign C3-related disorder 2019-02-22 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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