ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1149C>T (p.Leu383=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003177374 SCV003863838 likely benign Hereditary cancer-predisposing syndrome 2022-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779558 SCV004606293 likely benign Gorlin syndrome; Medulloblastoma 2023-06-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004598258 SCV005092720 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SUFU: BP4, BP7

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