ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3018C>T (p.Thr1006=)

gnomAD frequency: 0.00006  dbSNP: rs141373588
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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 RCV000912038 SCV001057123 likely benign not provided 2023-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495507 SCV002794757 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-01-10 criteria provided, single submitter clinical testing

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