ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) (rs534723946)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626102 SCV000746728 uncertain significance Amyotrophic lateral sclerosis type 4 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791025 SCV000930291 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-04-27 criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143813 SCV000188706 probable-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Inherited Neuropathy Consortium RCV000790203 SCV000929595 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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