ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.715C>A (p.Arg239=)

gnomAD frequency: 0.00002  dbSNP: rs369465986
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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 RCV000530833 SCV000623125 likely benign Gorlin syndrome; Medulloblastoma 2023-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367757 SCV002662763 likely benign Hereditary cancer-predisposing syndrome 2021-06-25 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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