ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.5356_5357del (p.Leu1786fs) (rs886037903)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000240623 SCV000299254 likely pathogenic Brugada syndrome 1 2016-01-01 criteria provided, single submitter clinical testing This variant has not been identified in large population databases (Gnomad, 1000 Genomes, Go NL, Exome Variant Server) and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Color Health, Inc RCV001178808 SCV001343337 likely pathogenic Arrhythmia 2019-12-02 criteria provided, single submitter clinical testing

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