ClinVar Miner

Submissions for variant NM_000064.4(C3):c.1686+20G>A

gnomAD frequency: 0.00212  dbSNP: rs76024222
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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 RCV002127362 SCV002403304 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500062 SCV002811165 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-07-21 criteria provided, single submitter clinical testing

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