Submissions for variant NM_001128425.2(MUTYH):c.-127C>T

gnomAD frequency: 0.02177  dbSNP: rs3219466

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000491011	SCV000580076	uncertain significance	Hereditary cancer-predisposing syndrome	2013-01-10	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Illumina Laboratory Services, Illumina	RCV001097391	SCV001253669	likely benign	Familial adenomatous polyposis 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Sema4, Sema4	RCV000491011	SCV002532218	likely benign	Hereditary cancer-predisposing syndrome	2021-05-11	criteria provided, single submitter	curation
Labcorp Genetics (formerly Invitae), Labcorp	RCV001097391	SCV002939391	benign	Familial adenomatous polyposis 2	2023-11-27	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000504244	SCV000592670	uncertain significance	not provided		no assertion criteria provided	clinical testing