ClinVar Miner

Submissions for variant NM_000064.4(C3):c.3687del (p.Asn1229fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005028715 SCV005647541 likely pathogenic Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2024-03-18 criteria provided, single submitter clinical testing

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