ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.807C>T (p.Val269=)

gnomAD frequency: 0.00002  dbSNP: rs919110211
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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 RCV001406908 SCV001608871 likely benign Gorlin syndrome; Medulloblastoma 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420667 SCV002677585 likely benign Hereditary cancer-predisposing syndrome 2020-11-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488740 SCV004241784 likely benign not specified 2023-12-31 criteria provided, single submitter clinical testing

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