ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1131C>T (p.Ser377=)

gnomAD frequency: 0.00001  dbSNP: rs775396007
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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 RCV000945808 SCV001091865 likely benign Gorlin syndrome; Medulloblastoma 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320160 SCV002609275 likely benign Hereditary cancer-predisposing syndrome 2017-11-22 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478593 SCV004221300 likely benign not provided 2023-07-20 criteria provided, single submitter clinical testing

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