ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.12T>A (p.Leu4=)

gnomAD frequency: 0.00001  dbSNP: rs777304665
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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 RCV002124431 SCV002441689 likely benign not provided 2022-09-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486948 SCV002795645 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-12-22 criteria provided, single submitter clinical testing

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