ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1134C>T (p.Ser378=)

gnomAD frequency: 0.00001  dbSNP: rs759460243
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001722430 SCV000601630 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000535119 SCV000639258 likely benign Familial adenomatous polyposis 2 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575994 SCV000662596 likely benign Hereditary cancer-predisposing syndrome 2015-05-20 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.
Color Diagnostics, LLC DBA Color Health RCV000575994 SCV000690507 likely benign Hereditary cancer-predisposing syndrome 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV001722430 SCV000723071 likely benign not provided 2019-07-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000506292 SCV001426953 likely benign not specified 2020-07-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000535119 SCV004835433 likely benign Familial adenomatous polyposis 2 2023-11-02 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000506292 SCV005090553 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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