ClinVar Miner

Submissions for variant NM_001173990.2(TMEM216):c.253C>A (p.Arg85=) (rs11230683)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514241 SCV000610821 likely benign not provided 2017-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000353548 SCV000334696 benign not specified 2015-09-04 criteria provided, single submitter clinical testing
Invitae RCV000543249 SCV000634559 benign Joubert syndrome 2017-11-06 criteria provided, single submitter clinical testing

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