ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.1451del (p.Lys484fs)

dbSNP: rs2545110459
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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 RCV003517512 SCV004244583 likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2023-12-21 criteria provided, single submitter clinical testing PVS1, PM2

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