ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1627-10T>G (rs863224538)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196291 SCV000253991 uncertain significance Familial adenomatous polyposis 1 2017-12-20 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. ClinVar contains an entry for this variant (Variation ID: 216152). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000581292 SCV000691717 uncertain significance not specified no assertion criteria provided clinical testing

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