ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) (rs281865564)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023708 SCV000044999 pathogenic Progressive myoclonus epilepsy with ataxia 2011-02-11 no assertion criteria provided literature only
GeneReviews RCV000023708 SCV000058216 pathologic Progressive myoclonus epilepsy with ataxia 2011-12-08 no assertion criteria provided curation Converted during submission to Pathogenic.

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