ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.911-7G>A

gnomAD frequency: 0.00006  dbSNP: rs558661774
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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 RCV000469308 SCV000544980 likely benign Gorlin syndrome; Medulloblastoma 2024-01-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821240 SCV002066500 likely benign not specified 2021-06-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256252 SCV002527213 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-24 criteria provided, single submitter curation
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529883 SCV001744129 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529883 SCV001959093 likely benign not provided no assertion criteria provided clinical testing

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