ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1446G>A (p.Arg482=)

gnomAD frequency: 0.00004  dbSNP: rs747201171
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162575 SCV000212991 likely benign Hereditary cancer-predisposing syndrome 2016-04-12 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 RCV001081006 SCV000639288 likely benign Familial adenomatous polyposis 2 2024-10-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162575 SCV000685591 likely benign Hereditary cancer-predisposing syndrome 2016-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000827451 SCV000969100 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000827451 SCV002046133 likely benign not provided 2020-09-23 criteria provided, single submitter clinical testing

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