ClinVar Miner

Submissions for variant NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) (rs41265127)

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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 RCV000180184 SCV000232576 likely benign not specified 2015-04-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224625 SCV000280786 benign not provided 2015-03-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000180184 SCV000305501 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000527250 SCV000641737 benign Lethal multiple pterygium syndrome 2018-01-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224625 SCV000693041 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing

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