ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.396C>T (p.Tyr132=)

gnomAD frequency: 0.00001  dbSNP: rs181115510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000762004 SCV000713932 likely benign not provided 2020-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762004 SCV000892239 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV001473179 SCV001677324 likely benign Brugada syndrome 5 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483683 SCV002803391 likely benign Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 2021-10-20 criteria provided, single submitter clinical testing

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