ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) (rs117370446)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712032 SCV000842446 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178010 SCV000229979 benign not specified 2015-03-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178010 SCV000594062 likely benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268862 SCV000381376 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328615 SCV000381377 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364677 SCV000381378 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265423 SCV000381379 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320490 SCV000381380 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000637010 SCV000758458 benign Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2017-09-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000178010 SCV000314561 likely benign not specified criteria provided, single submitter clinical testing

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