Submissions for variant NM_000038.6(APC):c.4919G>A (p.Arg1640Gln)

gnomAD frequency: 0.00001  dbSNP: rs529480958

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164191	SCV000214812	benign	Hereditary cancer-predisposing syndrome	2022-09-16	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206279	SCV000260685	benign	Familial adenomatous polyposis 1	2024-01-23	criteria provided, single submitter	clinical testing
Counsyl	RCV000206279	SCV000487904	uncertain significance	Familial adenomatous polyposis 1	2015-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001704029	SCV000565806	likely benign	not provided	2018-06-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24599579, 24728327, 27978560, 25980754, 25186627, 29684080)
Color Diagnostics, LLC DBA Color Health	RCV000164191	SCV000902833	likely benign	Hereditary cancer-predisposing syndrome	2016-06-15	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001704029	SCV002047331	benign	not provided	2020-10-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164191	SCV002534909	likely benign	Hereditary cancer-predisposing syndrome	2020-05-05	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000120041	SCV003844235	likely benign	not specified	2023-02-26	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000206279	SCV004018763	likely benign	Familial adenomatous polyposis 1	2023-02-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
CeGaT Center for Human Genetics Tuebingen	RCV001704029	SCV004159226	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	APC: BS1
ITMI	RCV000120041	SCV000084174	not provided	not specified	2013-09-19	no assertion provided	reference population