ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.379A>G (p.Arg127Gly) (rs62638643)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075065 SCV001240676 likely pathogenic Retinal dystrophy 2018-06-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085104 SCV001249291 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Retina International RCV000085104 SCV000117241 not provided not provided no assertion provided not provided

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