ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu)

dbSNP: rs1057516159
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000408861 SCV000484865 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2016-11-03 criteria provided, single submitter clinical testing

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