ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1166G>A (p.Arg389Gln)

gnomAD frequency: 0.00002  dbSNP: rs548409884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480258 SCV000570648 likely benign not provided 2019-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391701 SCV001593325 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-09-30 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV000480258 SCV004175072 uncertain significance not provided 2020-10-11 no assertion criteria provided clinical testing

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