ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2991G>A (p.Ala997=)

gnomAD frequency: 0.00011  dbSNP: rs150763358
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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 RCV002161473 SCV002475502 likely benign not provided 2022-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505844 SCV002795967 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-07-20 criteria provided, single submitter clinical testing

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