ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.186+7C>T

gnomAD frequency: 0.00001  dbSNP: rs886062102
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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 RCV001795984 SCV000467669 uncertain significance Wolff-Parkinson-White pattern 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348990 SCV000467670 uncertain significance Lethal congenital glycogen storage disease of heart 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394138 SCV000467671 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000348990 SCV001707949 likely benign Lethal congenital glycogen storage disease of heart 2021-08-15 criteria provided, single submitter clinical testing

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