ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.258G>A (p.Glu86=)

dbSNP: rs1183328233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001485317 SCV001689749 likely benign Gorlin syndrome; Medulloblastoma 2020-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160960 SCV003863837 likely benign Hereditary cancer-predisposing syndrome 2022-11-05 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.
CeGaT Center for Human Genetics Tuebingen RCV003992527 SCV004810777 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SUFU: BP4, BP7

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