ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.429C>T (p.Ser143=)

gnomAD frequency: 0.00034  dbSNP: rs112492491
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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 RCV002080604 SCV002380416 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479890 SCV002800533 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-12-29 criteria provided, single submitter clinical testing

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