ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7204A>T (p.Asn2402Tyr) (rs587780550)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119203 SCV000153944 uncertain significance Familial adenomatous polyposis 1 2014-06-11 no assertion criteria provided clinical testing This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) return conflicting predictions.

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