ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.485_486del (p.Phe162fs) (rs281865297)

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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 RCV001074887 SCV001240491 pathogenic Retinal dystrophy 2019-08-12 criteria provided, single submitter clinical testing
Retina International RCV000085108 SCV000117245 not provided not provided no assertion provided not provided
Human Genetics - Radboudumc,Radboudumc RCV000678626 SCV000804714 pathogenic Cone-rod dystrophy, X-linked 1 2016-09-01 no assertion criteria provided clinical testing

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