ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1366del (p.Glu456fs)

dbSNP: rs786205444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171153 SCV000221349 likely pathogenic not provided criteria provided, single submitter research
Faculty of Health Sciences, Beirut Arab University RCV001257817 SCV001434601 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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