ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter)

dbSNP: rs137853124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005271 SCV000025449 pathogenic Leber congenital amaurosis 6 2001-05-01 no assertion criteria provided literature only
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787885 SCV000926901 pathogenic Leber congenital amaurosis 2018-04-01 no assertion criteria provided research

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