ClinVar Miner

Submissions for variant NM_000064.4(C3):c.4457-13C>T

gnomAD frequency: 0.00003  dbSNP: rs375382978
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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 RCV002148686 SCV002470358 likely benign not provided 2024-03-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500301 SCV002804563 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-03-31 criteria provided, single submitter clinical testing

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