ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1259G>A (p.Gly420Asp)

dbSNP: rs200673864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187178 SCV000240758 uncertain significance not provided 2023-01-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001298122 SCV001487166 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-08-30 criteria provided, single submitter clinical testing

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