ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) (rs749647281)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725028 SCV000333347 uncertain significance not provided 2015-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000321794 SCV000716512 likely benign not specified 2017-03-09 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 RCV000547692 SCV000651603 likely benign Charcot-Marie-Tooth disease, axonal, type 2O 2017-03-14 criteria provided, single submitter clinical testing

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