ClinVar Miner

Submissions for variant NM_006392.4(NOP56):c.452G>C (p.Ser151Thr)

gnomAD frequency: 0.00001  dbSNP: rs1360494485
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626898 SCV000747601 uncertain significance Cerebellar ataxia; Mild global developmental delay 2017-01-01 criteria provided, single submitter clinical testing

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