ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.939+9G>C

dbSNP: rs942290509
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827207 SCV000968836 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001486046 SCV001690495 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-07-15 criteria provided, single submitter clinical testing

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