ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4167T>C (p.Ser1389=)

gnomAD frequency: 0.00001  dbSNP: rs747757364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775328 SCV000909593 likely benign Hereditary cancer-predisposing syndrome 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004561763 SCV003482937 likely benign Familial adenomatous polyposis 1 2022-04-12 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004561763 SCV004932885 benign Familial adenomatous polyposis 1 2024-03-26 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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