ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4636C>G (p.Pro1546Ala)

dbSNP: rs1555687655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660480 SCV000782579 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2017-02-10 criteria provided, single submitter clinical testing

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