ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser)

dbSNP: rs1403263153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244191 SCV002512551 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2021-10-18 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, PP3 supporting

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