ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1612-3C>A

dbSNP: rs1594204748
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995113 SCV001149116 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199772 SCV001162688 pathogenic Cone-rod dystrophy 2020-01-09 criteria provided, single submitter research
Genome-Nilou Lab RCV001800911 SCV002045856 uncertain significance Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800912 SCV002045867 uncertain significance Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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