Submissions for variant NM_000038.6(APC):c.1686G>A (p.Thr562=)

gnomAD frequency: 0.00003  dbSNP: rs770256026

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162562	SCV000212973	likely benign	Hereditary cancer-predisposing syndrome	2015-03-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl	RCV000411909	SCV000489216	likely benign	Familial adenomatous polyposis 1	2016-09-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000418223	SCV000512064	benign	not specified	2015-07-14	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.
Color Diagnostics, LLC DBA Color Health	RCV000162562	SCV000681483	likely benign	Hereditary cancer-predisposing syndrome	2016-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000411909	SCV000768437	likely benign	Familial adenomatous polyposis 1	2024-12-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679048	SCV000805371	likely benign	not provided	2017-10-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000418223	SCV001448436	likely benign	not specified	2020-11-12	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679048	SCV002046787	benign	not provided	2021-03-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162562	SCV002531725	likely benign	Hereditary cancer-predisposing syndrome	2021-08-07	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000411909	SCV004018565	benign	Familial adenomatous polyposis 1	2023-02-17	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen	RCV000679048	SCV004698613	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	APC: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003995203	SCV004837431	likely benign	Classic or attenuated familial adenomatous polyposis	2023-12-18	criteria provided, single submitter	clinical testing