ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.285G>C (p.Leu95=)

dbSNP: rs1589975337
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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 RCV001016803 SCV001177800 likely benign Hereditary cancer-predisposing syndrome 2019-07-23 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 RCV001462554 SCV001666473 likely benign Gorlin syndrome; Medulloblastoma 2023-12-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001016803 SCV002527198 likely benign Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter curation

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