ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1378C>T (p.Leu460=)

gnomAD frequency: 0.00002  dbSNP: rs1026187949
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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 RCV000925683 SCV001071232 likely benign not provided 2023-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495554 SCV002800389 likely benign Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2021-10-28 criteria provided, single submitter clinical testing

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