ClinVar Miner

Submissions for variant NM_000064.4(C3):c.4631-6C>T

gnomAD frequency: 0.00001  dbSNP: rs775109096
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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 RCV000899875 SCV001044165 likely benign not provided 2024-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479031 SCV002796509 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-03-27 criteria provided, single submitter clinical testing

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