ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4755T>G (p.Pro1585=) (rs151237267)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253267 SCV000312308 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288368 SCV000477822 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345636 SCV000477823 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544054 SCV000645267 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713217 SCV000843803 benign not provided 2017-08-31 criteria provided, single submitter clinical testing

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