ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3578del (p.Gln1193fs)

dbSNP: rs1554085131
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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. RCV003337324 SCV004045507 pathogenic Familial adenomatous polyposis 1 2023-05-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000582809 SCV000691741 likely pathogenic not provided no assertion criteria provided clinical testing

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