ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4075A>T (p.Lys1359Ter)

dbSNP: rs863225352
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004563114 SCV004043431 pathogenic Familial adenomatous polyposis 1 2023-05-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000202280 SCV000256986 likely pathogenic not provided no assertion criteria provided research

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