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

gnomAD frequency: 0.00004  dbSNP: rs147846364

Total submissions: 7

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: 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	RCV004563198	SCV000562636	likely benign	Familial adenomatous polyposis 1	2025-01-29	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
All of Us Research Program, National Institutes of Health	RCV003998006	SCV004837293	likely benign	Classic or attenuated familial adenomatous polyposis	2024-02-05	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004563198	SCV004933063	benign	Familial adenomatous polyposis 1	2024-02-23	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.