ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe)

gnomAD frequency: 0.00224  dbSNP: rs142502980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514817 SCV000610782 uncertain significance not provided 2017-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079956 SCV000654456 likely benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514817 SCV001150590 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CNTN2: BS2
PreventionGenetics, part of Exact Sciences RCV003942678 SCV004772892 likely benign CNTN2-related disorder 2020-01-09 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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