ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.27C>A (p.Ala9=)

dbSNP: rs1244167364
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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 RCV001458686 SCV001662511 likely benign Gorlin syndrome; Medulloblastoma 2023-10-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256783 SCV002527197 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-16 criteria provided, single submitter curation
Ambry Genetics RCV002256783 SCV005166091 likely benign Hereditary cancer-predisposing syndrome 2024-05-09 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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