ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) (rs112822256)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513566 SCV000609218 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625446 SCV000745373 likely benign Retinitis pigmentosa 25 2017-06-23 criteria provided, single submitter clinical testing
Counsyl RCV000625446 SCV000794865 uncertain significance Retinitis pigmentosa 25 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV000513566 SCV001118443 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504943 SCV000599168 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504943 SCV000926929 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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