ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.802C>T (p.Arg268Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990245 SCV004806687 uncertain significance Autosomal recessive spinocerebellar ataxia 2 2024-03-26 criteria provided, single submitter clinical testing

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