ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.310C>T (p.His104Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555293 SCV005044266 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2023-02-07 criteria provided, single submitter clinical testing ACMG Criteria: PM1,PM5,PM2_SUP,PP3,PP4

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