ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.*2248C>T (rs56743160)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000286932 SCV000343823 benign not specified 2016-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000286932 SCV000527694 likely benign not specified 2017-10-05 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 RCV000470157 SCV000561600 benign Charcot-Marie-Tooth disease type 4 2020-11-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173095 SCV001336171 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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