ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1639+3A>G (rs550752320)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188728 SCV000242352 benign not specified 2014-11-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000378382 SCV000378699 uncertain significance Progressive myoclonus epilepsy with ataxia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716771 SCV000847614 uncertain significance Seizures 2016-08-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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