ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2721-45C>T

gnomAD frequency: 0.35412  dbSNP: rs2288349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841155 SCV000983113 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001664479 SCV001875651 benign Autosomal dominant cerebellar ataxia, deafness and narcolepsy 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664478 SCV001875652 benign Hereditary sensory neuropathy-deafness-dementia syndrome 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000841155 SCV005309702 benign not provided criteria provided, single submitter not provided

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