ClinVar Miner

Submissions for variant NM_001243332.2(SEZ6L2):c.323C>T (p.Thr108Ile)

dbSNP: rs869025256
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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 RCV000207389 SCV000259129 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing

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