ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) (rs141743294)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186653 SCV000114699 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082657 SCV000152377 uncertain significance not provided 2013-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000186653 SCV000171176 benign not specified 2013-03-19 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.
Invitae RCV001083947 SCV000561681 benign Progressive myoclonus epilepsy with ataxia 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000082657 SCV000843382 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716582 SCV000847423 likely benign Seizures 2018-08-07 criteria provided, single submitter clinical testing Other strong data

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