ClinVar Miner

Submissions for variant NM_000038.6(APC):c.909G>A (p.Arg303=)

dbSNP: rs1580512337
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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 RCV001018832 SCV001180114 likely benign Hereditary cancer-predisposing syndrome 2019-02-21 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 RCV003537401 SCV004333819 likely benign Familial adenomatous polyposis 1 2023-07-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001018832 SCV004361016 likely benign Hereditary cancer-predisposing syndrome 2022-06-06 criteria provided, single submitter clinical testing

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