ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.826del (p.Leu276fs)

dbSNP: rs2151799674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001543476 SCV001762068 pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001587466 SCV001815879 likely pathogenic Leber congenital amaurosis 1 2021-06-16 criteria provided, single submitter clinical testing

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