ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1008C>T (p.Ala336=)

gnomAD frequency: 0.00002  dbSNP: rs770049693
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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 RCV000571000 SCV000675297 likely benign Hereditary cancer-predisposing syndrome 2017-06-26 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 RCV001486065 SCV001690514 likely benign Gorlin syndrome; Medulloblastoma 2021-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553291 SCV004753907 likely benign SUFU-related disorder 2022-12-22 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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