ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468862 SCV002765049 pathogenic Rett syndrome, congenital variant 2022-11-14 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2, PS4_SUP, PM1, PM2_SUP, PP3. PP2

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