ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp)

dbSNP: rs1559922528
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000785837 SCV000924410 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2018-01-01 no assertion criteria provided clinical testing

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