ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) (rs776289402)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995114 SCV001149118 likely pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075715 SCV001241343 pathogenic Retinal dystrophy 2019-05-08 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000678627 SCV000804715 pathogenic Leber congenital amaurosis 6 2016-09-01 no assertion criteria provided clinical testing

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