ClinVar Miner

Submissions for variant NM_003124.5(SPR):c.628C>T (p.Arg210Trp)

gnomAD frequency: 0.00012  dbSNP: rs200845457
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088920 SCV000287888 likely benign Dystonic disorder 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732128 SCV000860037 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785106 SCV000923665 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000732128 SCV001714595 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing PP3
GeneDx RCV000732128 SCV002013042 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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