ClinVar Miner

Submissions for variant NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) (rs112033303)

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Total submissions: 7
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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,PreventionGenetics RCV000124539 SCV000312590 likely benign not specified 2016-02-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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%
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000124539 SCV000854949 benign not specified 2017-07-13 criteria provided, single submitter clinical testing
Invitae RCV000676770 SCV001717805 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
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

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