ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.741C>T (p.Ile247=)

dbSNP: rs2135872473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392699 SCV001594347 likely benign Gorlin syndrome; Medulloblastoma 2022-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384557 SCV002671284 likely benign Hereditary cancer-predisposing syndrome 2023-03-14 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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