ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7602A>G (p.Glu2534=)

dbSNP: rs1580684642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026614 SCV001189034 likely benign Hereditary cancer-predisposing syndrome 2019-03-20 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 RCV003769626 SCV002435356 likely benign Familial adenomatous polyposis 1 2022-12-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003769626 SCV005084658 benign Familial adenomatous polyposis 1 2024-04-10 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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