ClinVar Miner

Submissions for variant NM_000038.6(APC):c.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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759440 SCV000888760 pathogenic not provided 2017-12-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003336170 SCV004043441 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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