ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)

dbSNP: rs780580887
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
INSERM U1051, Institut des Neurosciences de Montpellier RCV001249875 SCV001424150 likely pathogenic Retinitis pigmentosa 2020-06-24 criteria provided, single submitter research
DBGen Ocular Genomics RCV001587287 SCV001816088 likely pathogenic Leber congenital amaurosis 8 2021-06-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001587287 SCV004179930 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449804 SCV004179931 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001587287 SCV004211122 likely pathogenic Leber congenital amaurosis 8 2023-10-09 criteria provided, single submitter clinical testing

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