ClinVar Miner

Submissions for variant NM_002522.4(NPTX1):c.539G>T (p.Arg180Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV004536830 SCV004244577 likely pathogenic Spinocerebellar ataxia 50 2024-01-22 criteria provided, single submitter clinical testing PS2, PM2

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