ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.993C>T (p.Phe331=) (rs41303129)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180351 SCV000166878 benign not specified 2014-03-22 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180351 SCV000232764 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000180351 SCV000258150 benign not specified 2015-04-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349332 SCV000355249 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415784 SCV000493421 likely benign not provided 2017-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000180351 SCV000538237 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 ExAC 2.8% in european population with (24 homozygotes). Also Benign in Clinvar (by GeneDx and Emory)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000003830 SCV000884981 benign Coenzyme Q10 deficiency, primary, 4 2019-04-18 criteria provided, single submitter clinical testing
OMIM RCV000003830 SCV000023995 pathogenic Coenzyme Q10 deficiency, primary, 4 2008-03-01 no assertion criteria provided literature only
GeneReviews RCV000003830 SCV000494096 pathogenic Coenzyme Q10 deficiency, primary, 4 2016-06-07 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000415784 SCV000801931 benign not provided 2016-02-25 no assertion criteria provided clinical testing

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