ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.313_315del (p.Asn105del) (rs1057516154)

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Total submissions: 3
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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 RCV000408889 SCV000484860 uncertain significance Blepharophimosis, ptosis, and epicanthus inversus 2016-11-03 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV000408889 SCV000924412 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus 2015-01-01 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000408889 SCV001133048 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus 2019-09-26 no assertion criteria provided clinical testing

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