ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) (rs3739922)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081693 SCV000113624 benign not specified 2012-08-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081693 SCV000312303 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335767 SCV000477846 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398565 SCV000477847 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755629 SCV000605092 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576443 SCV000677476 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-04-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081693 SCV000152710 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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