ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=)

gnomAD frequency: 0.00003  dbSNP: rs758102050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328959 SCV000467263 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000358102 SCV000467264 uncertain significance Pitt-Hopkins-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000328959 SCV001200035 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-12-06 criteria provided, single submitter clinical testing

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