ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) (rs36024203)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000401603 SCV000477867 likely benign Ataxia with Oculomotor Apraxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306091 SCV000477868 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000515126 SCV000605095 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515126 SCV000610788 likely benign not provided 2017-04-05 criteria provided, single submitter clinical testing
Invitae RCV000515126 SCV000766560 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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