ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) (rs387906989)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679893 SCV000807311 pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory maternally inherited in a 2-year-old female with speech delay, regression, hypoglycemia, abnormal MRI, possible seizures
OMIM RCV000023710 SCV000045001 uncertain significance Epilepsy, progressive myoclonic 5 2011-02-11 no assertion criteria provided literature only

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