ClinVar Miner

Submissions for variant NM_000064.4(C3):c.2354+19C>T

gnomAD frequency: 0.00019  dbSNP: rs192942944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002132481 SCV002409519 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508019 SCV002812502 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002132481 SCV005310274 benign not provided criteria provided, single submitter not provided

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