ClinVar Miner

Submissions for variant NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) (rs387906530)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000014811 SCV000891288 likely pathogenic Renal coloboma syndrome 2016-08-24 criteria provided, single submitter clinical testing
OMIM RCV000014811 SCV000035066 pathogenic Renal coloboma syndrome 2012-03-01 no assertion criteria provided literature only

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