ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) (rs189150283)

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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 RCV000329167 SCV000344439 pathogenic not provided 2016-08-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763074 SCV000893584 pathogenic Schwannomatosis 2; Noonan syndrome 10 2018-10-31 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736158 SCV000864455 pathogenic Short stature 2001-11-18 no assertion criteria provided case-control

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