ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.170-6C>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002280463 SCV002568590 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV002280463 SCV003524499 likely benign not provided 2022-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534034 SCV004715865 likely benign CNTNAP1-related disorder 2021-09-09 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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