ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.276C>T (p.Gly92=) (rs886046631)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000268162 SCV000359882 uncertain significance Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325677 SCV000359883 uncertain significance Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382577 SCV000359884 uncertain significance Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290618 SCV000359885 uncertain significance Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing

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