ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)

gnomAD frequency: 0.00014  dbSNP: rs137880855
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464552 SCV000544988 likely benign Gorlin syndrome; Medulloblastoma 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017160 SCV001178196 benign Hereditary cancer-predisposing syndrome 2021-01-04 criteria provided, single submitter clinical testing This alteration is classified as 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002480368 SCV002011615 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480368 SCV002774245 likely benign not provided 2022-10-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003463873 SCV004205662 uncertain significance Familial meningioma 2024-03-13 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333747 SCV004041759 uncertain significance Gorlin syndrome 2023-10-09 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483616 SCV004228826 not provided Gorlin syndrome; Joubert syndrome 32 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-12-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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