ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.2161C>T (p.Pro721Ser) (rs116445698)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000419164 SCV000892858 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419164 SCV000510638 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000114245 SCV000227859 benign not specified 2015-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000114245 SCV000517164 likely benign not specified 2016-03-31 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.
Genetic Services Laboratory, University of Chicago RCV000114245 SCV000147803 benign not specified 2013-08-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114245 SCV000316332 likely benign not specified criteria provided, single submitter clinical testing

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