ClinVar Miner

Submissions for variant NM_017825.3(ADPRS):c.242T>A (p.Met81Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003990909 SCV004807987 uncertain significance Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 2024-03-29 criteria provided, single submitter clinical testing

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