ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2672T>C (p.Val891Ala) (rs148181729)

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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 RCV000372562 SCV000477861 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280363 SCV000477862 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000644850 SCV000766565 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-10-05 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789558 SCV000928914 uncertain significance Autosomal dominant distal hereditary motor neuropathy no assertion criteria provided literature only

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