ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.179del (p.Leu60fs)

dbSNP: rs786205652
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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 RCV000171525 SCV000221724 likely pathogenic not provided criteria provided, single submitter research
Dept Of Ophthalmology, Nagoya University RCV003888609 SCV004704682 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Faculty of Health Sciences, Beirut Arab University RCV001257880 SCV001434631 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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