ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1297-13T>C

gnomAD frequency: 0.00012  dbSNP: rs557592503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002077894 SCV002322944 likely benign Gorlin syndrome; Medulloblastoma 2023-11-19 criteria provided, single submitter clinical testing
GeneDx RCV003161337 SCV003915266 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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