ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1284A>G (p.Glu428=)

dbSNP: rs1762869036
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189521 SCV001356831 likely benign Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004564639 SCV001707855 likely benign Familial adenomatous polyposis 1 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001189521 SCV002695836 likely benign Hereditary cancer-predisposing syndrome 2020-11-03 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.
Myriad Genetics, Inc. RCV004564639 SCV004932761 benign Familial adenomatous polyposis 1 2024-03-01 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.
Breakthrough Genomics, Breakthrough Genomics RCV004706069 SCV005226813 likely benign not provided criteria provided, single submitter not provided

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