Submissions for variant NM_001127511.3(APC):c.119G>C (p.Ser40Thr)

gnomAD frequency: 0.00013  dbSNP: rs587778028

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000542057	SCV000647299	likely benign	Familial adenomatous polyposis 1	2025-01-22	criteria provided, single submitter	clinical testing
Counsyl	RCV000542057	SCV000785515	uncertain significance	Familial adenomatous polyposis 1	2017-08-30	criteria provided, single submitter	clinical testing
Mendelics	RCV000542057	SCV000838056	benign	Familial adenomatous polyposis 1	2023-08-22	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000120010	SCV002550546	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001705881	SCV005893921	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	APC: BP4
ITMI	RCV000120010	SCV000084140	not provided	not specified	2013-09-19	no assertion provided	reference population
Clinical Genetics, Academic Medical Center	RCV001705881	SCV001920305	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705881	SCV001953531	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001705881	SCV002035332	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739409	SCV005345899	likely benign	APC-related disorder	2024-05-06	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).