ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1887G>A (p.Pro629=)

gnomAD frequency: 0.00001  dbSNP: rs747150559
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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 RCV001906517 SCV002172601 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490211 SCV002788415 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-10-15 criteria provided, single submitter clinical testing

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