ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) (rs61750052)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000399685 SCV000410236 likely benign Dementia, Deafness, and Sensory Neuropathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000421531 SCV000521470 benign not specified 2016-07-01 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.
Invitae RCV000546845 SCV000651285 benign Hereditary sensory neuropathy type IE 2018-01-10 criteria provided, single submitter clinical testing

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