Submissions for variant NM_003384.3(VRK1):c.705C>T (p.Gly235=)

gnomAD frequency: 0.32707  dbSNP: rs2230532

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000118848	SCV000309579	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608474	SCV000389783	benign	Pontocerebellar hypoplasia type 1A	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000714185	SCV000844872	benign	not provided	2017-11-16	criteria provided, single submitter	clinical testing
Invitae	RCV000608474	SCV001721922	benign	Pontocerebellar hypoplasia type 1A	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000608474	SCV001755097	benign	Pontocerebellar hypoplasia type 1A	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000714185	SCV001859922	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000118848	SCV000153502	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	RCV000608474	SCV000733416	benign	Pontocerebellar hypoplasia type 1A		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001273256	SCV001456100	benign	Congenital pontocerebellar hypoplasia type 1	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000118848	SCV001925798	benign	not specified		no assertion criteria provided	clinical testing