ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.7209+7T>G (rs745813087)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729391 SCV000857048 uncertain significance not provided 2017-10-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270876 SCV000381316 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323734 SCV000381317 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380635 SCV000381318 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283328 SCV000381319 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322071 SCV000381320 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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