ClinVar Miner

Submissions for variant NM_003098.2(SNTA1):c.-200C>T

gnomAD frequency: 0.00009  dbSNP: rs879769686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000362225 SCV000433530 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269953 SCV000433531 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694599 SCV005194936 uncertain significance not provided criteria provided, single submitter not provided

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