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

dbSNP: rs139421676

Total submissions: 7

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.
Eurofins Ntd Llc (ga)	RCV000180006	SCV000232339	benign	not specified	2015-03-20	criteria provided, single submitter	clinical testing
Invitae	RCV000469177	SCV000561673	benign	Epilepsy, progressive myoclonic, 1B	2024-02-01	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	RCV002312923	SCV000848943	likely benign	Inborn genetic diseases	2016-12-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705918	SCV001929466	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705918	SCV001972141	likely benign	not provided		no assertion criteria provided	clinical testing