ClinVar Miner

Submissions for variant NM_015160.3(PMPCA):c.1330G>A (p.Val444Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555487 SCV005044462 uncertain significance Autosomal recessive spinocerebellar ataxia 2 2022-04-05 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PM3_SUP, PP3 (ACMG Version 3)

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