ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1459+5C>T (rs200387978)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667100 SCV000791498 uncertain significance Retinitis pigmentosa 25 2017-05-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762420 SCV000892735 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787832 SCV000926846 likely pathogenic Stargardt disease 2018-04-01 no assertion criteria provided research

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