ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3462dup (p.Leu1155fs)

dbSNP: rs2037140260
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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 RCV001199651 SCV001162439 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001090825 SCV001246568 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing

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