ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.624G>A (p.Glu208=)

gnomAD frequency: 0.00159  dbSNP: rs140900853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000882374 SCV001025610 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817080 SCV002072268 likely benign not specified 2018-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882374 SCV002546113 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing GFI1B: BP4, BP7

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