ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.576C>T (p.Phe192=)

gnomAD frequency: 0.00421  dbSNP: rs150813342
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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 RCV000971147 SCV001118769 benign not provided 2018-06-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971147 SCV001962588 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing GFI1B: BP4, BP7, BS2
Genetic Services Laboratory, University of Chicago RCV001819113 SCV002072267 benign not specified 2021-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000971147 SCV005225995 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003906007 SCV004722222 likely benign GFI1B-related disorder 2023-02-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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