ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.945del (p.Val316fs)

dbSNP: rs2044341412
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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 RCV001253012 SCV001428513 pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2018-10-02 criteria provided, single submitter clinical testing

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