ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2050T>C (p.Leu684=)

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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 RCV004565643 SCV003287377 likely benign Familial adenomatous polyposis 1 2022-06-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003585322 SCV004360055 likely benign Hereditary cancer-predisposing syndrome 2022-12-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004565643 SCV004933028 benign Familial adenomatous polyposis 1 2024-03-08 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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