ClinVar Miner

Submissions for variant NM_017449.5(EPHB2):c.787G>A (p.Val263Ile)

gnomAD frequency: 0.00009  dbSNP: rs150803261
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207356 SCV000259162 likely benign Irido-corneo-trabecular dysgenesis 2013-01-01 criteria provided, single submitter clinical testing

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