Submissions for variant NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=)

gnomAD frequency: 0.32044  dbSNP: rs3747563

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000118050	SCV000232795	benign	not specified	2014-07-02	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712845	SCV000843383	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312236	SCV000845979	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV001517090	SCV001725504	benign	Epilepsy, progressive myoclonic, 1B	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000712845	SCV001889555	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118050	SCV000152378	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000118050	SCV001742837	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118050	SCV001929121	benign	not specified		no assertion criteria provided	clinical testing