ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1449C>T (p.His483=)

gnomAD frequency: 0.00044  dbSNP: rs140133060
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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 RCV000933591 SCV001079293 likely benign not provided 2024-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489246 SCV002796034 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-10-30 criteria provided, single submitter clinical testing

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