ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.894G>T (p.Arg298=)

gnomAD frequency: 0.00001  dbSNP: rs372636246
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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 RCV001425629 SCV001628262 likely benign Gorlin syndrome; Medulloblastoma 2023-03-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257864 SCV002527212 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-27 criteria provided, single submitter curation
Ambry Genetics RCV002257864 SCV003863857 likely benign Hereditary cancer-predisposing syndrome 2023-01-23 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.

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