Submissions for variant NM_003384.3(VRK1):c.1020C>T (p.Asp340=)

gnomAD frequency: 0.00066  dbSNP: rs147853760

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000727208	SCV000515255	likely benign	not provided	2020-06-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000445136	SCV000597929	likely benign	not specified	2017-01-11	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727208	SCV000706623	uncertain significance	not provided	2017-03-15	criteria provided, single submitter	clinical testing
Invitae	RCV001116698	SCV000762295	benign	Pontocerebellar hypoplasia type 1A	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001116698	SCV001274819	uncertain significance	Pontocerebellar hypoplasia type 1A	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000727208	SCV001334500	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	VRK1: BP4, BP7
Ambry Genetics	RCV002379307	SCV002670360	likely benign	Inborn genetic diseases	2019-07-11	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	RCV000727208	SCV001978279	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000727208	SCV001980205	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001116698	SCV002093707	likely benign	Pontocerebellar hypoplasia type 1A	2019-10-23	no assertion criteria provided	clinical testing