ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) (rs142647321)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755251 SCV000603384 benign not provided 2017-05-26 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203118 SCV000257799 benign not specified 2015-04-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000203118 SCV000229860 benign not specified 2016-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000203118 SCV000512839 likely benign not specified 2017-05-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000400726 SCV000410213 likely benign Dementia, Deafness, and Sensory Neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540213 SCV000651313 likely benign Hereditary sensory neuropathy type IE 2017-12-27 criteria provided, single submitter clinical testing

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