ClinVar Miner

Submissions for variant NM_000038.6(APC):c.635_636dup (p.Arg213fs)

dbSNP: rs1561485947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002251837 SCV002522533 likely pathogenic not provided 2021-04-07 criteria provided, single submitter clinical testing PM2, PVS1
Myriad Genetics, Inc. RCV004565250 SCV004044785 pathogenic Familial adenomatous polyposis 1 2023-04-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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