ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.885A>G (p.Thr295=)

dbSNP: rs2135882202
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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 RCV002204777 SCV002352789 likely benign Gorlin syndrome; Medulloblastoma 2022-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002443133 SCV002682753 likely benign Hereditary cancer-predisposing syndrome 2020-09-21 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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