ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)

gnomAD frequency: 0.00001  dbSNP: rs386834146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137593 SCV003819892 uncertain significance not provided 2021-05-03 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000050140 SCV002577593 pathogenic Infantile onset spinocerebellar ataxia 2022-02-18 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3, PP5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050140 SCV000082550 likely pathogenic Infantile onset spinocerebellar ataxia no assertion criteria provided not provided Converted during submission from probable-pathogenic to Likely pathogenic.

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