ClinVar Miner

Submissions for variant NM_001349232.2(ATG7):c.1478A>G (p.Lys493Arg)

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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 RCV003993586 SCV004809592 uncertain significance Spinocerebellar ataxia, autosomal recessive 31 2024-04-04 criteria provided, single submitter clinical testing

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