ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*3578G>A (rs148939995)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235608 SCV000292669 likely benign not specified 2017-09-22 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000235608 SCV000334698 likely benign not specified 2015-09-24 criteria provided, single submitter clinical testing
Invitae RCV000467899 SCV000561611 likely benign Charcot-Marie-Tooth disease type 4 2017-12-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000235608 SCV000604942 uncertain significance not specified 2017-01-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658835 SCV000780631 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing

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