ClinVar Miner

Submissions for variant NM_153427.2(PITX2):c.*454C>T (rs6533526)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University RCV000162087 SCV000212086 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Illumina Clinical Services Laboratory,Illumina RCV000382147 SCV000447041 benign Cataract 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290152 SCV000447042 benign Anterior segment mesenchymal dysgenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347493 SCV000447043 benign PITX2-Related Eye Abnormalities 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385721 SCV000447044 benign Ring dermoid of cornea 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293383 SCV000447045 benign Axenfeld-Rieger Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350621 SCV000447046 benign Iridogoniodysgenesis, dominant type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392643 SCV000447047 benign Irido-corneo-trabecular dysgenesis 2016-06-14 criteria provided, single submitter clinical testing

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