ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) (rs117598326)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000242910 SCV000512828 benign not specified 2016-01-06 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 RCV000260353 SCV000410385 likely benign Centronuclear Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299038 SCV000410386 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000225811 SCV000285659 benign Charcot-Marie-Tooth disease, dominant intermediate B 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242910 SCV000305625 benign not specified criteria provided, single submitter clinical testing

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