ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.273G>A (p.Val91=)

gnomAD frequency: 0.00001  dbSNP: rs16969926
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725130 SCV000334334 uncertain significance not provided 2015-08-20 criteria provided, single submitter clinical testing
GeneDx RCV000289390 SCV000514501 likely benign not specified 2017-01-23 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.
Invitae RCV000646749 SCV000768534 likely benign Brugada syndrome 5 2023-11-08 criteria provided, single submitter clinical testing

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