ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.255C>T (p.Pro85=)

gnomAD frequency: 0.00016  dbSNP: rs113671745
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628520 SCV000749422 likely benign Gorlin syndrome; Medulloblastoma 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015930 SCV001176825 likely benign Hereditary cancer-predisposing syndrome 2017-12-06 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 RCV003424197 SCV004127282 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SUFU: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003424197 SCV004221306 benign not provided 2023-02-13 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.