ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn)

dbSNP: rs2125484835
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580677 SCV001810371 uncertain significance Leber congenital amaurosis 8 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580678 SCV001810372 uncertain significance Pigmented paravenous retinochoroidal atrophy 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580676 SCV001810374 uncertain significance Retinitis pigmentosa 12 2021-07-22 criteria provided, single submitter clinical testing

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