ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.44C>T (p.Pro15Leu)

dbSNP: rs28942088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004772827 SCV005383141 uncertain significance not provided 2024-01-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 12068298)
OMIM RCV000003750 SCV000023915 pathogenic Medulloblastoma 2002-07-01 no assertion criteria provided literature only

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