ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)

dbSNP: rs387906321
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Total submissions: 7
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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 RCV000408801 SCV000484884 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2016-11-03 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000408801 SCV000924431 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512795 SCV002986554 pathogenic not provided 2023-12-05 criteria provided, single submitter clinical testing This variant, c.672_701dup, results in the insertion of 10 amino acid(s) of the FOXL2 protein (p.Ala225_Ala234dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with blepharophimosis (PMID: 17277738, 18484667). It has also been observed to segregate with disease in related individuals. This variant is also known as p.224_234dup10. ClinVar contains an entry for this variant (Variation ID: 4854). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000408801 SCV004027630 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2023-07-17 criteria provided, single submitter clinical testing Criteria applied: PS4,PP1_STR,PM4,PM2_SUP,PP4
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000408801 SCV005418289 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome criteria provided, single submitter clinical testing PM2_Supporting+PM4+PS4+PP1_Strong+PP4
OMIM RCV000005127 SCV000025304 pathogenic BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II 2005-12-01 no assertion criteria provided literature only
OMIM RCV000005128 SCV000025305 pathogenic Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome 2005-12-01 no assertion criteria provided literature only

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