ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.1274G>A (p.Arg425Lys) (rs1801687)

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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 RCV000173994 SCV000225213 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000173994 SCV000269753 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Arg425Lys in exon 11 of RPGR: This variant is not expected to have clinical si gnificance because it has been identified in 15.4% (591/3833) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1801687).
PreventionGenetics,PreventionGenetics RCV000173994 SCV000303605 benign not specified criteria provided, single submitter clinical testing
Retina International RCV000085049 SCV000117185 not provided not provided no assertion provided not provided
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000085049 SCV000119188 not provided not provided no assertion provided not provided

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