ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.588T>C (p.Asn196=)

gnomAD frequency: 0.00117  dbSNP: rs77244433
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127914 SCV000171500 benign not specified 2013-07-16 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.
PreventionGenetics, part of Exact Sciences RCV000127914 SCV000306085 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000462584 SCV000557247 likely benign Brugada syndrome 5 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000127914 SCV000615053 benign not specified 2016-08-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000127914 SCV000860092 benign not specified 2018-03-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001725994 SCV001473652 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001725994 SCV001961799 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SCN1B: BP4, BP7
Ambry Genetics RCV002354319 SCV002653603 likely benign Cardiovascular phenotype 2017-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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