ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.1905+1191_1905+1192del (rs606231180)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074702 SCV001240295 pathogenic Retinal dystrophy 2019-04-03 criteria provided, single submitter clinical testing
OMIM RCV000010588 SCV000030814 pathogenic Cone-rod dystrophy, X-linked 1 2002-04-01 no assertion criteria provided literature only
Edmonton Ocular Genetics,Alberta Health Services RCV000010588 SCV000606851 pathogenic Cone-rod dystrophy, X-linked 1 2016-03-24 no assertion criteria provided provider interpretation Whereas this particular mutation has been associated with cone-rod dystrophy (2 families), the same variant is present in our family with X-linked RP. This then represents a first report of a patient with XLRP carrying this variant.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003190 SCV001161267 pathogenic Cone/cone-rod dystrophy 2019-06-23 no assertion criteria provided research
Blueprint Genetics RCV001251568 SCV001427348 pathogenic Retinitis pigmentosa 15 no assertion criteria provided clinical testing

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