ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1014C>A (p.Ile338=)

gnomAD frequency: 0.00004  dbSNP: rs771549675
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908893 SCV001053677 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000422 SCV001157230 likely benign not specified 2019-02-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454944 SCV004178879 likely benign Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454945 SCV004178880 likely benign Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454943 SCV004178881 likely benign Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923117 SCV004744211 likely benign CRB1-related condition 2019-11-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001271896 SCV001453390 uncertain significance Leber congenital amaurosis 2020-01-17 no assertion criteria provided clinical testing

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