ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) (rs74874677)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124677 SCV000168111 benign not specified 2011-09-20 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 RCV000124677 SCV000315370 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124677 SCV000340761 benign not specified 2016-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000124677 SCV000603302 benign not specified 2018-07-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139590 SCV001299764 likely benign Mitochondrial DNA-depletion syndrome 3, hepatocerebral 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000239473 SCV000297865 pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 2016-08-18 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000677030 SCV000802864 uncertain significance not provided 2016-02-23 no assertion criteria provided clinical testing

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