ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.116-53C>T

dbSNP: rs2149177611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524020 SCV001733777 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-24 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the -11 position of intron 2 of the MUTYH gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002568052 SCV002966790 likely benign Familial adenomatous polyposis 2 2024-10-23 criteria provided, single submitter clinical testing

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