ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.466C>T (p.Arg156Trp)

dbSNP: rs866152144
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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 RCV002244214 SCV002512593 uncertain significance Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2021-05-05 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3

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