ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.409+7C>T (rs189327749)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229567 SCV000290380 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248908 SCV000313040 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351000 SCV000432542 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248908 SCV000514904 likely benign not specified 2017-06-27 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 RCV000248908 SCV000597497 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000351000 SCV000734234 likely benign Pheochromocytoma no assertion criteria provided clinical testing

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