Submissions for variant NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)

gnomAD frequency: 0.00006  dbSNP: rs587778046

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163521	SCV000214079	likely benign	Hereditary cancer-predisposing syndrome	2019-11-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199434	SCV000252939	likely benign	Familial adenomatous polyposis 1	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001704030	SCV000293586	likely benign	not provided	2021-06-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 26530882, 28135048, 28195569, 28873162, 25479140)
Color Diagnostics, LLC DBA Color Health	RCV000163521	SCV000681920	likely benign	Hereditary cancer-predisposing syndrome	2020-11-10	criteria provided, single submitter	clinical testing
Counsyl	RCV000199434	SCV000784916	uncertain significance	Familial adenomatous polyposis 1	2017-02-08	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV001704030	SCV002503285	uncertain significance	not provided	2020-05-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120047	SCV002773890	benign	not specified	2021-07-28	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000199434	SCV004018766	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.
ITMI	RCV000120047	SCV000084181	not provided	not specified	2013-09-19	no assertion provided	reference population
3DMed Clinical Laboratory Inc	RCV000677785	SCV000803941	uncertain significance	Neoplasm of the liver	2018-05-21	no assertion criteria provided	clinical testing
3DMed Clinical Laboratory Inc	RCV000677786	SCV000803942	uncertain significance	Hepatocellular carcinoma	2018-05-21	no assertion criteria provided	clinical testing
3DMed Clinical Laboratory Inc	RCV000677787	SCV000803943	uncertain significance	Intrahepatic cholangiocarcinoma	2018-05-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952585	SCV004768397	likely benign	APC-related disorder	2020-03-06	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).