ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) (rs778646190)

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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 RCV000176282 SCV000227913 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Counsyl RCV000673072 SCV000798240 uncertain significance Retinitis pigmentosa 25 2018-03-06 criteria provided, single submitter clinical testing
Mendelics RCV000673072 SCV001137165 uncertain significance Retinitis pigmentosa 25 2019-05-28 criteria provided, single submitter clinical testing

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