ClinVar Miner

Submissions for variant NM_017686.4(GDAP2):c.1291T>G (p.Phe431Val)

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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 RCV003990823 SCV004807815 uncertain significance Spinocerebellar ataxia, autosomal recessive 27 2024-03-29 criteria provided, single submitter clinical testing

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