ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=)

dbSNP: rs201219937
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186621 SCV000167815 benign not specified 2014-01-16 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.
Eurofins Ntd Llc (ga) RCV000724334 SCV000227947 uncertain significance not provided 2014-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085826 SCV000289930 benign Cortical dysplasia-focal epilepsy syndrome 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316360 SCV000850780 likely benign Inborn genetic diseases 2016-10-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003935182 SCV004750981 likely benign CNTNAP2-related disorder 2019-06-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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