Submissions for variant NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)

dbSNP: rs112033303

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124539	SCV000167972	benign	not specified	2012-03-20	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.
PreventionGenetics, part of Exact Sciences	RCV000124539	SCV000312590	likely benign	not specified	2016-02-23	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000124539	SCV000538728	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 198/11788=1.67%
Eurofins Ntd Llc (ga)	RCV000124539	SCV000854949	benign	not specified	2017-07-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000676770	SCV001717805	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294039	SCV002587235	benign	Focal segmental glomerulosclerosis	2022-03-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492460	SCV002799187	likely benign	Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to	2021-10-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676770	SCV005260139	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676770	SCV000802571	benign	not provided	2016-03-07	no assertion criteria provided	clinical testing
SingHealth Duke-NUS Institute of Precision Medicine	RCV000721994	SCV000853153	uncertain significance	Coenzyme Q10 deficiency, primary, 1	2017-06-07	no assertion criteria provided	curation