ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1613del (p.Gly538fs) (rs1553704183)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000627013 SCV000747716 likely pathogenic Arrhythmia 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195957 SCV001366384 pathogenic Sick sinus syndrome 1, autosomal recessive 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP1,PP4.

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