ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6507G>A (p.Gly2169=) (rs34073320)

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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 RCV000242598 SCV000312317 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400042 SCV000477804 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285100 SCV000477805 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527335 SCV000645277 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-08-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000527335 SCV000677477 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia autosomal recessive 1 2017-05-23 criteria provided, single submitter clinical testing

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