ClinVar Miner

Submissions for variant NM_000064.4(C3):c.322G>A (p.Val108Met)

gnomAD frequency: 0.00001  dbSNP: rs747923416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005021339 SCV005648793 uncertain significance Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2024-05-10 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029992 SCV001192794 uncertain significance Atypical hemolytic-uremic syndrome with C3 anomaly 2019-10-28 no assertion criteria provided clinical testing

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