ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1366-8C>T

gnomAD frequency: 0.00003  dbSNP: rs1212706214
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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 RCV000877709 SCV001020486 likely benign Gorlin syndrome; Medulloblastoma 2023-11-09 criteria provided, single submitter clinical testing
GeneDx RCV004761845 SCV005371577 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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