ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.1549T>C (p.Leu517=) (rs752942122)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000299546 SCV000381597 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335728 SCV000381598 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398619 SCV000381599 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305920 SCV000381600 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360538 SCV000381601 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728042 SCV000855565 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing
Invitae RCV000728042 SCV001001416 likely benign not provided 2018-09-17 criteria provided, single submitter clinical testing

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