ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2698C>A (p.Arg900=)

dbSNP: rs375318010
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081595 SCV000113526 uncertain significance not provided 2013-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055207 SCV002393141 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000081595 SCV004185498 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing CNTNAP2: PM2, BP4

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