ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2592T>C (p.Tyr864=)

gnomAD frequency: 0.00004  dbSNP: rs201639860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001513878 SCV001721575 benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-11 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132680 SCV000172632 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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