ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.384C>T (p.Ser128=) (rs148234280)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000336672 SCV000332191 uncertain significance not provided 2015-06-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347919 SCV000359886 uncertain significance Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386725 SCV000359887 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294722 SCV000359888 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351895 SCV000359889 uncertain significance Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 criteria provided, single submitter clinical testing

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