ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)

dbSNP: rs1576469579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000785862 SCV001136616 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2019-05-28 criteria provided, single submitter clinical testing
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000785862 SCV000924446 pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2011-01-01 no assertion criteria provided clinical testing

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