ClinVar Miner

Submissions for variant NM_000038.6(APC):c.762A>G (p.Ser254=)

dbSNP: rs2149711683
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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 RCV004565230 SCV002418107 likely benign Familial adenomatous polyposis 1 2021-10-17 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004565230 SCV004932925 benign Familial adenomatous polyposis 1 2024-02-26 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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