ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) (rs116605521)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038949 SCV000062627 benign not specified 2011-05-10 criteria provided, single submitter clinical testing
Invitae RCV000227227 SCV000290213 benign Glycogen storage disease of heart, lethal congenital 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038949 SCV000312628 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248696 SCV000318292 benign Cardiovascular phenotype 2014-12-08 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000332853 SCV000467684 benign Familial hypertrophic cardiomyopathy 6 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000387303 SCV000467685 benign Wolff-Parkinson-White pattern 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000038949 SCV000740494 likely benign not specified 2016-08-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770267 SCV000901699 benign Cardiomyopathy 2015-11-18 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770267 SCV000910855 benign Cardiomyopathy 2018-03-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285136 SCV001471502 benign none provided 2020-03-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529923 SCV001744254 likely benign not provided no assertion criteria provided clinical testing

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