ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2677-493A>G

gnomAD frequency: 0.41382  dbSNP: rs7534863
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001532867 SCV001748637 benign Leber congenital amaurosis 8 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532868 SCV001748638 benign Pigmented paravenous retinochoroidal atrophy 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532869 SCV001748639 benign Retinitis pigmentosa 12 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715482 SCV005287937 benign not provided criteria provided, single submitter not provided

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