ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.311A>G (p.His104Arg)

dbSNP: rs1057516153
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Total submissions: 2
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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 RCV000408824 SCV000484859 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2016-11-03 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000408824 SCV000924411 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2011-01-01 no assertion criteria provided clinical testing

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