ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1605_1606del (p.Glu536fs)

dbSNP: rs1554081906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501433 SCV000591080 pathogenic Familial multiple polyposis syndrome criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003337293 SCV004043993 pathogenic Familial adenomatous polyposis 1 2023-05-02 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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