ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7164C>A (p.Ala2388=)

dbSNP: rs1554088092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004571830 SCV003262487 likely benign Familial adenomatous polyposis 1 2022-08-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004571830 SCV005085337 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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