ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.66C>T (p.Ala22=)

dbSNP: rs1265496966
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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 RCV001484158 SCV001688570 likely benign Gorlin syndrome; Medulloblastoma 2021-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368486 SCV002665931 likely benign Hereditary cancer-predisposing syndrome 2020-11-18 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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