ClinVar Miner

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

dbSNP: rs786205652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003888609 SCV004704682 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992208 SCV004810047 pathogenic Retinitis pigmentosa 25 2024-04-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171525 SCV000221724 likely pathogenic not provided flagged submission 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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