ClinVar Miner

Submissions for variant NM_000064.4(C3):c.216G>A (p.Glu72=)

gnomAD frequency: 0.00009  dbSNP: rs375940408
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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 RCV002165655 SCV002342235 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507878 SCV002806395 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-11-16 criteria provided, single submitter clinical testing

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