ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1629T>C (p.Val543=)

gnomAD frequency: 0.00001  dbSNP: rs779848042
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515482 SCV000562597 likely benign Familial adenomatous polyposis 1 2023-07-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001175691 SCV001339392 likely benign Hereditary cancer-predisposing syndrome 2019-10-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997042 SCV004837426 likely benign Classic or attenuated familial adenomatous polyposis 2023-09-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV002515482 SCV004931840 benign Familial adenomatous polyposis 1 2024-03-06 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000202214 SCV000256928 likely benign not specified no assertion criteria provided research

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