ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.*5C>T

gnomAD frequency: 0.00002  dbSNP: rs762103625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545673 SCV001765051 likely benign not provided 2017-07-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008924 SCV004824466 uncertain significance Cardiac arrhythmia 2023-12-13 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution in the 3' untranslated region of the SCN5A gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related disorders in the literature. This variant has been identified in 3/176744 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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