ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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clinical testing This variant is classified as benign based on its high frequency in the general population (3%; LMM unpublished data).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,PreventionGenetics RCV000038344 SCV000310859 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250128 SCV000318006 benign Cardiovascular phenotype 2015-06-25 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 RCV000406533 SCV000390653 benign Familial hypertrophic cardiomyopathy 11 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 RCV000370108 SCV000390655 likely benign Dilated cardiomyopathy 1R 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000463848 SCV000561258 benign Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2019-12-31 criteria provided, single submitter clinical testing
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

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