Submissions for variant NM_000038.6(APC):c.6750C>T (p.Gly2250=)

gnomAD frequency: 0.00003  dbSNP: rs555799753

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003534360	SCV000166052	likely benign	Familial adenomatous polyposis 1	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000679081	SCV000515422	likely benign	not provided	2021-01-25	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000424815	SCV000600138	likely benign	not specified	2017-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570370	SCV000667280	likely benign	Hereditary cancer-predisposing syndrome	2015-09-05	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health	RCV000570370	SCV000681824	likely benign	Hereditary cancer-predisposing syndrome	2016-11-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679081	SCV000805457	likely benign	not provided	2018-01-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000424815	SCV000916499	likely benign	not specified	2019-08-08	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000424815	SCV004243255	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing