ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly)

dbSNP: rs1568249130
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785084 SCV000923639 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785085 SCV000923640 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy 2019-01-01 criteria provided, single submitter clinical testing

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