ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro)

dbSNP: rs1553752849
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677693 SCV000803840 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2014-07-29 criteria provided, single submitter clinical testing

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