ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)

dbSNP: rs561075447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV004794467 SCV005415421 pathogenic Retinal dystrophy 2024-05-27 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985170 SCV001133176 pathogenic Retinitis pigmentosa 1 2019-09-26 no assertion criteria provided clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257794 SCV001434657 pathogenic Autosomal recessive retinitis pigmentosa 2018-09-03 no assertion criteria provided literature only

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