ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+181T>C

gnomAD frequency: 0.41721  dbSNP: rs55742440
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000127905 SCV000050836 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000127905 SCV000171491 benign not specified 2013-07-22 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 RCV000860223 SCV001000203 benign Brugada syndrome 5 2025-02-04 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000127905 SCV005087584 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 55% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 51. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004717058 SCV005314861 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000127905 SCV001921067 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000127905 SCV001932152 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127905 SCV001954688 benign not specified no assertion criteria provided clinical testing

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