ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.59G>A (p.Arg20His) (rs79740039)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000327408 SCV000477897 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363505 SCV000477898 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507126 SCV000605093 benign not specified 2016-10-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000507126 SCV000615203 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
Invitae RCV000551163 SCV000645276 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-12-04 criteria provided, single submitter clinical testing

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