ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) (rs2228612)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124762 SCV000168201 benign not specified 2013-12-11 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.
PreventionGenetics,PreventionGenetics RCV000124762 SCV000306775 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124762 SCV000335664 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339574 SCV000410252 benign Dementia, Deafness, and Sensory Neuropathy 2016-06-14 criteria provided, single submitter clinical testing

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