ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.550C>T (p.Leu184=)

dbSNP: rs1553128497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562821 SCV000670164 likely benign Hereditary cancer-predisposing syndrome 2017-02-28 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 RCV000562821 SCV001352892 likely benign Hereditary cancer-predisposing syndrome 2019-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504152 SCV001709022 likely benign Familial adenomatous polyposis 2 2020-02-26 criteria provided, single submitter clinical testing

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