ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1479+13C>G

gnomAD frequency: 0.00002  dbSNP: rs368352750
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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 RCV002092431 SCV002321582 likely benign not provided 2024-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507850 SCV002808670 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-05-26 criteria provided, single submitter clinical testing

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