ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1059G>A (p.Thr353=)

gnomAD frequency: 0.00005  dbSNP: rs780683814
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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 RCV001429990 SCV001632713 likely benign Gorlin syndrome; Medulloblastoma 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414018 SCV002716038 benign Hereditary cancer-predisposing syndrome 2022-01-25 criteria provided, single submitter clinical testing This alteration is classified as 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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