ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2368-2A>G

dbSNP: rs1064797182
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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 RCV000487634 SCV000574965 likely pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199768 SCV001162684 pathogenic Leber congenital amaurosis 2020-01-09 criteria provided, single submitter research
Genome-Nilou Lab RCV001800703 SCV002044792 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800704 SCV002044803 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing

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