ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)

dbSNP: rs62635659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002490326 SCV002793493 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-12-11 criteria provided, single submitter clinical testing
OMIM RCV000006088 SCV000026270 pathogenic Leber congenital amaurosis 8 2001-07-01 no assertion criteria provided literature only
Retina International RCV000086340 SCV000118486 not provided not provided no assertion provided not provided

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