ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.-322T>C

gnomAD frequency: 0.00504  dbSNP: rs142348760
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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 RCV000396048 SCV000467714 uncertain significance Lethal congenital glycogen storage disease of heart 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001795987 SCV000467715 uncertain significance Wolff-Parkinson-White pattern 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368759 SCV000467716 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001643087 SCV001855289 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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