ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1593-3T>C (rs3740486)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124042 SCV000167451 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.
PreventionGenetics,PreventionGenetics RCV000124042 SCV000313799 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382498 SCV000359927 benign Mitochondrial DNA depletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288050 SCV000359928 benign Ataxia Neuropathy Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343097 SCV000359929 benign Autosomal recessive cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379002 SCV000359930 benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000124042 SCV000612502 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676303 SCV000802060 benign not provided 2016-02-11 no assertion criteria provided clinical testing

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