ClinVar Miner

Submissions for variant NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) (rs377614744)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306869 SCV000381437 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363839 SCV000381438 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271533 SCV000381439 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328955 SCV000381440 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376492 SCV000381441 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000869776 SCV001011231 likely benign not provided 2018-07-06 criteria provided, single submitter clinical testing

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