ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) (rs201819948)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175412 SCV000226889 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625444 SCV000745366 uncertain significance Retinitis pigmentosa 25 2016-02-04 criteria provided, single submitter clinical testing
Counsyl RCV000625444 SCV000791888 uncertain significance Retinitis pigmentosa 25 2017-05-30 criteria provided, single submitter clinical testing

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