ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.238+7C>T

gnomAD frequency: 0.00562  dbSNP: rs11793702
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973032 SCV001120767 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973032 SCV002063270 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing GFI1B: BP4, BS2
Genetic Services Laboratory, University of Chicago RCV001819130 SCV002072265 benign not specified 2021-08-02 criteria provided, single submitter clinical testing

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