ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.1697G>A (p.Gly566Glu) (rs1801688)

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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 RCV000078651 SCV000110507 benign not specified 2013-10-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078651 SCV000269757 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly566Glu in exon 14 of RPGR: This variant is not expected to have clinical si gnificance because it has been identified in 16.0% (614/3833) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1801688).
PreventionGenetics,PreventionGenetics RCV000078651 SCV000303614 benign not specified criteria provided, single submitter clinical testing
Retina International RCV000085070 SCV000117207 not provided not provided no assertion provided not provided

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