ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe)

dbSNP: rs397509391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043631 SCV000071656 pathogenic Autosomal dominant cerebellar ataxia, deafness and narcolepsy 2012-05-15 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447103 SCV004174783 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2016-01-06 no assertion criteria provided literature only

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