ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.*76G>T

gnomAD frequency: 0.00605  dbSNP: rs367768639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732539 SCV000860507 benign not specified 2018-04-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127329 SCV001286631 benign Brugada syndrome 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001127330 SCV001286632 benign Generalized epilepsy with febrile seizures plus, type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae RCV001127329 SCV003509029 benign Brugada syndrome 5 2022-11-29 criteria provided, single submitter clinical testing

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