ClinVar Miner

Submissions for variant NM_000064.4(C3):c.4546+18G>A

gnomAD frequency: 0.00003  dbSNP: rs377076572
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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 RCV002126595 SCV002452778 likely benign not provided 2024-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494432 SCV002801831 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2022-02-09 criteria provided, single submitter clinical testing

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