ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.412-11del (rs886059007)

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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 RCV000296761 SCV000447125 uncertain significance Axenfeld-Rieger Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351635 SCV000447126 uncertain significance Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387455 SCV000447127 uncertain significance Anterior segment dysgenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292816 SCV000447128 uncertain significance Anterior segment dysgenesis 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347788 SCV000447129 uncertain significance Cataract (disease) 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393072 SCV000447130 uncertain significance PITX2-Related Eye Abnormalities 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308078 SCV000447131 uncertain significance Ring dermoid of cornea 2016-06-14 criteria provided, single submitter clinical testing

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