ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) (rs151117904)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251546 SCV000312325 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393538 SCV000477787 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000302102 SCV000477788 likely benign Amyotrophic lateral sclerosis type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000143819 SCV000511398 likely benign not provided 2016-11-08 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000143819 SCV000609355 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV001080640 SCV000645291 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-12-31 criteria provided, single submitter clinical testing
ALS/MND Lab,University of Malta RCV001260210 SCV001437179 uncertain significance Amyotrophic lateral sclerosis 2020-09-09 criteria provided, single submitter case-control
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143819 SCV000188712 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.

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