ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) (rs139421676)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180006 SCV000171184 benign not specified 2013-10-28 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180006 SCV000232339 benign not specified 2015-03-20 criteria provided, single submitter clinical testing
Invitae RCV000469177 SCV000561673 benign Progressive myoclonus epilepsy with ataxia 2020-11-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000180006 SCV000614769 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718081 SCV000848943 likely benign Seizures 2016-12-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001705918 SCV001929466 likely benign not provided no assertion criteria provided clinical testing

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