ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) (rs34000644)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000300843 SCV000477785 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000337112 SCV000477786 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507046 SCV000605096 uncertain significance not specified 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV000556745 SCV000645294 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-05-08 criteria provided, single submitter clinical testing

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