ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.184C>T (p.Leu62Phe)

dbSNP: rs538443416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752361 SCV001997189 uncertain significance not provided 2019-12-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001752361 SCV004644490 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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