ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.223A>G (p.Ile75Val) (rs111631988)

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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 RCV000177042 SCV000228854 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000177042 SCV000269758 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ile75Val in exon 3 of RPGR: This variant is not expected to have clinical sign ificance because it has been identified in 8.9% (343/3833) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs111631988).
Invitae RCV000474670 SCV000557300 benign Primary ciliary dyskinesia 2017-08-12 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086937 SCV000119189 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000086937 SCV000172560 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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