ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) (rs147551003)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000173554 SCV000575220 uncertain significance not provided 2016-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000173554 SCV000280759 uncertain significance not provided 2016-01-18 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173554 SCV000224676 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000197326 SCV000251319 uncertain significance not specified 2017-07-13 criteria provided, single submitter clinical testing The A2S variant in the DGUOK gene has previously been reported in association with mitochondrial depletion syndrome in two unrelated individuals who were also compound heterozygous for another variant in DGUOK, however one of these individual's also harbored another variant in cis with A2S ( Mousson et al., 2007; Buchaklian et al., 2012).
GenomeConnect, ClinGen RCV000660620 SCV000986887 not provided Mitochondrial DNA-depletion syndrome 3, hepatocerebral no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 10/30/2014 by GTR ID 320384. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660620 SCV000782738 uncertain significance Mitochondrial DNA-depletion syndrome 3, hepatocerebral 2017-09-21 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000173554 SCV000802859 uncertain significance not provided 2016-03-08 no assertion criteria provided clinical testing

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