ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup)

dbSNP: rs863225452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005131 SCV000025308 pathogenic BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II 2001-07-15 no assertion criteria provided literature only
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000785831 SCV000924404 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2011-01-01 no assertion criteria provided clinical testing

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