ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1161T>C (p.Leu387=)

gnomAD frequency: 0.00001  dbSNP: rs550693666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001264534 SCV001442738 likely benign not specified 2020-10-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524459 SCV001734308 likely benign Hereditary cancer-predisposing syndrome 2020-09-15 criteria provided, single submitter clinical testing
Invitae RCV002069385 SCV002439657 likely benign Familial adenomatous polyposis 2 2023-06-16 criteria provided, single submitter clinical testing

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