ClinVar Miner

Submissions for variant NM_000283.4(PDE6B):c.1832+1G>T

dbSNP: rs370758397
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199717 SCV001162581 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001091291 SCV001247227 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625541 SCV000746036 pathogenic Retinitis pigmentosa 40 2017-09-18 no assertion criteria provided clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV000625541 SCV001481997 likely pathogenic Retinitis pigmentosa 40 2021-02-10 no assertion criteria provided research

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