ClinVar Miner

Submissions for variant NM_000038.6(APC):c.634A>G (p.Lys212Glu)

gnomAD frequency: 0.00004  dbSNP: rs771232437
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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 RCV004568995 SCV000647637 likely benign Familial adenomatous polyposis 1 2023-08-16 criteria provided, single submitter clinical testing
GeneDx RCV004787892 SCV005402014 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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