ClinVar Miner

Submissions for variant NM_000038.6(APC):c.645+129A>C

gnomAD frequency: 0.04561  dbSNP: rs2289485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835979 SCV000977804 benign not provided 2018-06-15 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.
Systems Biology Platform Zhejiang California International NanoSystems Institute RCV000073926 SCV000105519 cancer Familial colorectal cancer no assertion criteria provided not provided Converted during submission to other.

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