ClinVar Miner

Submissions for variant NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr)

dbSNP: rs67486287
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Total submissions: 9
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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 RCV000127908 SCV000055222 benign not specified 2013-06-24 criteria provided, single submitter research
GeneDx RCV000127908 SCV000171494 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 RCV000860328 SCV001000348 benign Brugada syndrome 5 2025-02-04 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000127908 SCV005091727 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 31% 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: 29. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004716913 SCV005314863 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001841545 SCV000053104 benign Cardiac arrhythmia 2013-04-22 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000127908 SCV001917748 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000127908 SCV001928241 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000127908 SCV001952307 benign not specified no assertion criteria provided clinical testing

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