ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.927T>C (p.Pro309=) (rs2307493)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250128 SCV000318006 benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770510 SCV000901955 benign Cardiomyopathy 2015-12-03 criteria provided, single submitter clinical testing
Color RCV000770510 SCV000910690 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406533 SCV000390653 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312233 SCV000390654 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370108 SCV000390655 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277871 SCV000390656 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297745 SCV000390657 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463848 SCV000561258 benign Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038344 SCV000062016 benign not specified 2011-06-09 criteria provided, single submitter clinical testing This variant is classified as benign based on its high frequency in the general population (3%; LMM unpublished data).
PreventionGenetics RCV000038344 SCV000310859 benign not specified criteria provided, single submitter clinical testing

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