Submissions for variant NM_001048174.2(MUTYH):c.1103-27C>T

gnomAD frequency: 0.00300  dbSNP: rs3219490

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000986300	SCV001135250	likely benign	Familial adenomatous polyposis 2	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000993996	SCV001147265	benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	MUTYH: BS1, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000986300	SCV001724007	benign	Familial adenomatous polyposis 2	2023-09-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000993996	SCV001815602	likely benign	not provided	2019-06-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17949294, 15943555, 17524638, 16774938, 16616356, 16557584, 22297469, 20191381, 21777424, 27829682)
Sema4, Sema4	RCV002259066	SCV002532207	likely benign	Hereditary cancer-predisposing syndrome	2021-07-29	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002268383	SCV002552452	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004536012	SCV004737105	likely benign	MUTYH-related disorder	2021-12-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).