ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.*566GT[3]

dbSNP: rs886050558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287317 SCV000387167 uncertain significance Combined Pituitary Hormone Deficiency, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000321280 SCV000387168 uncertain significance Syndromic Microphthalmia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378345 SCV000387169 uncertain significance Retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281553 SCV000387170 uncertain significance OTX2-Related Syndromic Microphthalmia 2016-06-14 criteria provided, single submitter clinical testing

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