ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5283A>G (p.Gln1761=) (rs139063885)

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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 RCV000376752 SCV000477818 uncertain significance Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284631 SCV000477819 uncertain significance Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000713219 SCV000645272 likely benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713219 SCV000843805 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing

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