ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3489+18T>C

gnomAD frequency: 0.00001  dbSNP: rs747517809
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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 RCV002151374 SCV002468704 likely benign not provided 2022-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494462 SCV002803515 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-05-20 criteria provided, single submitter clinical testing

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