ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.*2939G>C

gnomAD frequency: 0.00077  dbSNP: rs757631990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287473 SCV000367482 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003401293 SCV004136153 benign not provided 2022-08-01 criteria provided, single submitter clinical testing SCN4B: BS1, BS2

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