ClinVar Miner

Submissions for variant NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser)

dbSNP: rs786205529
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Total submissions: 3
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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 RCV000171298 SCV000221495 likely pathogenic not provided criteria provided, single submitter research
Dept Of Ophthalmology, Nagoya University RCV003888607 SCV004705435 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Faculty of Health Sciences, Beirut Arab University RCV001257804 SCV001434682 pathogenic Autosomal dominant retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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