ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)

gnomAD frequency: 0.00001  dbSNP: rs557930078
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050405 SCV001214509 likely benign Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827318 SCV002090180 uncertain significance Leber congenital amaurosis 2020-03-04 no assertion criteria provided clinical testing

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