ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.588T>C (p.Asn196=) (rs77244433)

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Total submissions: 5
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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,PreventionGenetics RCV000127914 SCV000306085 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000462584 SCV000557247 likely benign Brugada syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000127914 SCV000615053 benign not specified 2016-08-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127914 SCV000860092 benign not specified 2018-03-12 criteria provided, single submitter clinical testing

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