ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.1729_1730delinsTGAA (p.Met577Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315174 SCV004014797 likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2023-04-20 criteria provided, single submitter clinical testing

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