ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.858+1del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV004574794 SCV005055441 pathogenic Leber congenital amaurosis 2 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023574 SCV005660978 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 2024-02-07 criteria provided, single submitter clinical testing

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