ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1986A>G (p.Ser662=)

gnomAD frequency: 0.00021  dbSNP: rs115400822
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396570 SCV000341512 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878595 SCV001021522 benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-12-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000396570 SCV001159253 likely benign not specified 2018-08-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454813 SCV004179988 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454814 SCV004179989 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454812 SCV004179990 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888687 SCV004705164 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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