ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.267C>T (p.His89=)

gnomAD frequency: 0.00001  dbSNP: rs1236109627
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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 RCV001016309 SCV001177253 likely benign Hereditary cancer-predisposing syndrome 2019-07-21 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 RCV001414458 SCV001616596 likely benign Gorlin syndrome; Medulloblastoma 2024-01-16 criteria provided, single submitter clinical testing

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