ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3858C>T (p.Ala1286=)

gnomAD frequency: 0.00006  dbSNP: rs751808949
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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 RCV001942302 SCV002232103 likely benign not provided 2022-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492125 SCV002794806 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-02-26 criteria provided, single submitter clinical testing

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