ClinVar Miner

Submissions for variant NM_000038.6(APC):c.221-5T>C (rs1057524155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438575 SCV000534702 likely benign not specified 2016-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588735 SCV000694010 uncertain significance not provided 2016-07-10 criteria provided, single submitter clinical testing Variant summary: c.221-5T>C in APC gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant weaken the acceptor cite, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from control population dataset of ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports or cited by reputable databases/clinical laboratory. Taking together the variant was classified as VUS until additional information becomes available.

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