ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.*373_*375GTT[1] (rs886059004)

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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 RCV000297372 SCV000447048 uncertain significance Cataract (disease) 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335991 SCV000447049 uncertain significance Anterior segment dysgenesis 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405211 SCV000447050 uncertain significance Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300902 SCV000447051 uncertain significance Axenfeld-Rieger Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357833 SCV000447052 uncertain significance PITX2-Related Eye Abnormalities 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265475 SCV000447053 uncertain significance Anterior segment dysgenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304266 SCV000447054 uncertain significance Ring dermoid of cornea 2016-06-14 criteria provided, single submitter clinical testing

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