ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1593-5C>T (rs3740485)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000124041 SCV000612503 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000124041 SCV000167450 benign not specified 2011-07-01 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 RCV000331870 SCV000359923 benign Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386399 SCV000359924 benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273221 SCV000359925 benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328346 SCV000359926 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676302 SCV000802059 benign not provided 2016-02-11 no assertion criteria provided clinical testing
PreventionGenetics RCV000124041 SCV000313800 benign not specified criteria provided, single submitter clinical testing

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