ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3716-17TCTT[3]

dbSNP: rs142426153
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081602 SCV000113533 benign not specified 2013-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000081602 SCV000240741 benign not specified 2013-12-20 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.
PreventionGenetics, part of Exact Sciences RCV000081602 SCV000312076 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000081602 SCV000677261 benign not specified 2024-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000576384 SCV002333660 benign Cortical dysplasia-focal epilepsy syndrome 2025-02-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081602 SCV000247066 benign not specified 2014-07-01 no assertion criteria provided clinical testing

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