ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) (rs149240122)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194685 SCV000332398 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194685 SCV000249159 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000558256 SCV000746880 uncertain significance Joubert syndrome 14 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000558256 SCV000651990 benign Joubert syndrome 14 2017-01-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000194685 SCV000306314 likely benign not specified criteria provided, single submitter clinical testing

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