Submissions for variant NM_001127511.3(APC):c.78C>A (p.Ser26Arg)

gnomAD frequency: 0.00928  dbSNP: rs113782655

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000120009	SCV000167019	benign	not specified	2013-12-31	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Vantari Genetics	RCV000123676	SCV000266987	benign	Hereditary cancer-predisposing syndrome	2016-02-04	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000238598	SCV000297026	benign	Familial multiple polyposis syndrome	2015-10-13	criteria provided, single submitter	clinical testing
Counsyl	RCV000410035	SCV000488267	benign	Familial adenomatous polyposis 1	2016-02-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000410035	SCV000647303	benign	Familial adenomatous polyposis 1	2025-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000120009	SCV000806333	benign	not specified	2017-02-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003103728	SCV000883412	benign	not provided	2022-04-11	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000120009	SCV002550544	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
ITMI	RCV000120009	SCV000084139	not provided	not specified	2013-09-19	no assertion provided	reference population