ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.1367A>G (p.Gln456Arg) (rs144635565)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078646 SCV000110502 benign not specified 2013-08-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078646 SCV000303608 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430730 SCV000510656 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Invitae RCV000465442 SCV000557296 benign Primary ciliary dyskinesia 2017-12-27 criteria provided, single submitter clinical testing

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