ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1735-14C>A (rs201795189)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124046 SCV000167455 benign not specified 2013-06-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000335702 SCV000359935 likely benign Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396649 SCV000359936 likely benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314586 SCV000359937 likely benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369307 SCV000359938 likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124046 SCV000313802 benign not specified criteria provided, single submitter clinical testing

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