ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.126C>G (p.Arg42=)

gnomAD frequency: 0.00003  dbSNP: rs779935477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575477 SCV000675292 likely benign Hereditary cancer-predisposing syndrome 2017-03-24 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 RCV000628517 SCV000749419 likely benign Gorlin syndrome; Medulloblastoma 2024-01-03 criteria provided, single submitter clinical testing

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