ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)

dbSNP: rs62642584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005031580 SCV005664041 likely pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 2024-05-22 criteria provided, single submitter clinical testing
Retina International RCV000085191 SCV000117328 not provided not provided no assertion provided not provided

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