ClinVar Miner

Submissions for variant NM_000038.6(APC):c.540A>G (p.Leu180=)

dbSNP: rs2149639092
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004037863 SCV001711774 likely benign Familial adenomatous polyposis 1 2024-07-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007229 SCV004818102 likely benign Classic or attenuated familial adenomatous polyposis 2023-03-23 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004037863 SCV004931929 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.

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