ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.1576_1578CAA[1] (p.Gln527del) (rs62653033)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078649 SCV000110505 benign not specified 2013-10-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078649 SCV000269755 benign not specified 2016-01-29 criteria provided, single submitter clinical testing p.Gln527del in exon 14 of RPGR: This variant is not expected to have clinical si gnificance because it has been identified in 2.8% (1333/46868) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs398123335).
PreventionGenetics,PreventionGenetics RCV000078649 SCV000303612 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000458656 SCV000557295 benign Primary ciliary dyskinesia 2017-08-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000078649 SCV001159194 benign not specified 2019-02-01 criteria provided, single submitter clinical testing
Retina International RCV000085068 SCV000117205 not provided not provided no assertion provided not provided

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