ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+296C>A

gnomAD frequency: 0.13979  dbSNP: rs67701503
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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 RCV000127906 SCV000055221 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000127906 SCV000171492 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 RCV000860327 SCV001000347 benign Brugada syndrome 5 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000127906 SCV005091717 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 32% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 30. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004717059 SCV005314862 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000127906 SCV001920519 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000127906 SCV001926412 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127906 SCV001952056 benign not specified no assertion criteria provided clinical testing

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