Submissions for variant NM_000038.6(APC):c.588C>T (p.Ile196=)

gnomAD frequency: 0.00004  dbSNP: rs147846364

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000223661	SCV000277104	likely benign	Hereditary cancer-predisposing syndrome	2016-01-21	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.
Invitae	RCV003743665	SCV000562636	likely benign	Familial adenomatous polyposis 1	2024-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000223661	SCV000681768	likely benign	Hereditary cancer-predisposing syndrome	2017-01-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679072	SCV000805443	likely benign	not provided	2017-08-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003987456	SCV004803328	likely benign	not specified	2024-01-15	criteria provided, single submitter	clinical testing