ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7197A>G (p.Lys2399=)

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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 RCV004565722 SCV003515240 likely benign Familial adenomatous polyposis 1 2022-05-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003585362 SCV004356711 likely benign Hereditary cancer-predisposing syndrome 2023-12-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004565722 SCV005082673 benign Familial adenomatous polyposis 1 2024-04-09 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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