ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.537G>A (p.Leu179=)

gnomAD frequency: 0.00004  dbSNP: rs139580429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458989 SCV000557075 likely benign Gorlin syndrome; Medulloblastoma 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024006 SCV001185956 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.
GeneDx RCV001547599 SCV001767346 likely benign not provided 2019-01-30 criteria provided, single submitter clinical testing

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