ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT (rs745522483)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421055 SCV000511520 likely benign not provided 2016-12-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000244056 SCV000333822 uncertain significance not specified 2015-08-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000244056 SCV000594064 uncertain significance not specified 2016-04-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272669 SCV000381542 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327333 SCV000381543 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363368 SCV000381544 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268780 SCV000381545 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333193 SCV000381546 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205653 SCV000260288 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-06-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244056 SCV000314530 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing

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