ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1452G>A (p.Glu484=)

gnomAD frequency: 0.00041  dbSNP: rs146594928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899656 SCV001043939 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502646 SCV002804856 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-01-07 criteria provided, single submitter clinical testing

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