ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.129C>T (p.Arg43=)

dbSNP: rs1453485604
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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 RCV001478685 SCV001682960 likely benign Gorlin syndrome; Medulloblastoma 2022-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384776 SCV002689807 likely benign Hereditary cancer-predisposing syndrome 2020-10-29 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 RCV003426138 SCV004127280 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SUFU: BP4, BP7

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