ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1491G>A (p.Lys497=)

gnomAD frequency: 0.00001  dbSNP: rs768360920
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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 RCV000902441 SCV001046863 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502670 SCV002811882 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-07-22 criteria provided, single submitter clinical testing

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