ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)

dbSNP: rs1057518774
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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 RCV000415217 SCV000492562 uncertain significance Cerebellar ataxia; Cerebral atrophy; Dysarthria; Dysphagia; Cerebellar atrophy; Acanthocytosis; Chorea 2015-11-17 criteria provided, single submitter clinical testing

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