ClinVar Miner

Submissions for variant NM_000064.4(C3):c.420C>A (p.Thr140=)

gnomAD frequency: 0.00011  dbSNP: rs182399298
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002115499 SCV002398821 likely benign not provided 2024-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499985 SCV002795505 likely benign Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency 2021-11-19 criteria provided, single submitter clinical testing

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