ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.522C>T (p.Leu174=)

dbSNP: rs35478147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600999 SCV000730780 likely benign not specified 2017-09-27 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.
CeGaT Center for Human Genetics Tuebingen RCV001311512 SCV001501707 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066784 SCV002383901 likely benign Brugada syndrome 5 2024-01-22 criteria provided, single submitter clinical testing

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