ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.-119-101C>T

gnomAD frequency: 0.00142  dbSNP: rs534764707
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376817 SCV000483483 uncertain significance Retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284540 SCV000483484 uncertain significance OTX2-Related Syndromic Microphthalmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346482 SCV000483485 uncertain significance Combined Pituitary Hormone Deficiency, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400816 SCV000483486 uncertain significance Syndromic Microphthalmia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311797 SCV004010287 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing OTX2: BS1
Breakthrough Genomics, Breakthrough Genomics RCV003311797 SCV005191379 uncertain significance not provided criteria provided, single submitter not provided

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