ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.951del (p.Thr318fs)

dbSNP: rs11351249
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515009 SCV000610374 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788271 SCV002029356 benign Enhanced S-cone syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788272 SCV002029368 benign Retinitis pigmentosa 37 2021-09-05 criteria provided, single submitter clinical testing
Faculty of Health Sciences, Beirut Arab University RCV001257806 SCV001434684 pathogenic Autosomal recessive retinitis pigmentosa 2012-10-26 no assertion criteria provided literature only
Natera, Inc. RCV001788271 SCV002085631 benign Enhanced S-cone syndrome 2019-10-28 no assertion criteria provided clinical testing

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