ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.879C>T (p.Ile293=)

gnomAD frequency: 0.00009  dbSNP: rs370516021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018347 SCV001179573 likely benign Hereditary cancer-predisposing syndrome 2018-01-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001400946 SCV001602757 likely benign Gorlin syndrome; Medulloblastoma 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551544 SCV004715033 likely benign SUFU-related disorder 2022-10-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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