ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg)

gnomAD frequency: 0.00001  dbSNP: rs2054189787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199487 SCV001162557 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818146 SCV005071020 uncertain significance Retinal dystrophy 2017-01-01 criteria provided, single submitter clinical testing

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