ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)

gnomAD frequency: 0.00505  dbSNP: rs143708376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554979 SCV000648511 benign Neutropenia, severe congenital, 2, autosomal dominant 2025-01-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821568 SCV002065931 benign not specified 2021-04-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573502 SCV005281026 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573502 SCV001799480 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573502 SCV001932211 likely benign not provided no assertion criteria provided clinical testing

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