ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1995A>G (p.Leu665=)

dbSNP: rs1023818848
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567318 SCV000667726 likely benign Hereditary cancer-predisposing syndrome 2017-03-30 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.
Color Diagnostics, LLC DBA Color Health RCV000567318 SCV001358999 likely benign Hereditary cancer-predisposing syndrome 2019-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562433 SCV001617647 likely benign Familial adenomatous polyposis 1 2024-01-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821671 SCV002070360 likely benign not specified 2020-08-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000994 SCV004839635 likely benign Classic or attenuated familial adenomatous polyposis 2023-09-17 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004562433 SCV004931301 benign Familial adenomatous polyposis 1 2024-03-08 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.

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