ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.927del (p.Pro310fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003314082 SCV004013182 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2023-04-04 criteria provided, single submitter clinical testing PVS1, PM2

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