ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.-40C>T

gnomAD frequency: 0.00503  dbSNP: rs148715621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340917 SCV000467693 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397799 SCV000467694 uncertain significance Lethal congenital glycogen storage disease of heart 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795985 SCV000467695 uncertain significance Wolff-Parkinson-White pattern 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001712759 SCV001945613 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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