ClinVar Miner

Submissions for variant NM_032682.5(FOXP1):c.1652+5G>A (rs794727216)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000358706 SCV000226844 uncertain significance not provided 2015-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000358706 SCV000330183 pathogenic not provided 2018-10-08 criteria provided, single submitter clinical testing The c.1652+5G>A variant in the FOXP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 18, and is expected to cause abnormal gene splicing. The c.1652+5G>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1652+5G>A as a pathogenic variant

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