ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) (rs61742937)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250229 SCV000312299 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387370 SCV000477858 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000250229 SCV000615170 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000541126 SCV000645244 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-08-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000250229 SCV000708396 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757759 SCV000886104 benign not provided 2017-05-02 criteria provided, single submitter clinical testing

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