ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.2242-8T>C (rs112368541)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214859 SCV000269751 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 2242-8T>C in intron 18A of RPGR: This variant is not expected to have clinical s ignificance because it has been identified in 3.3% (125/3788) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs112368541).
PreventionGenetics,PreventionGenetics RCV000214859 SCV000303617 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000548368 SCV000623949 benign not provided 2018-12-26 criteria provided, single submitter clinical testing

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