ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.234C>T (p.Asp78=)

gnomAD frequency: 0.00003  dbSNP: rs757110790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720216 SCV000525902 likely benign not provided 2019-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058948 SCV002327628 likely benign Cortical dysplasia-focal epilepsy syndrome 2021-08-11 criteria provided, single submitter clinical testing

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