ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.454+9G>A (rs148695567)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038328 SCV000061999 benign not specified 2012-03-01 criteria provided, single submitter clinical testing 454+9G>A in intron 2 of ACTC: This variant is not expected to have clinical sign ificance because it is not located in the highly conserved region of the splice consensus sequence and has been identified in 0.7% (27/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/; dbSNP rs148695567).
Invitae RCV000226354 SCV000288805 benign Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038328 SCV000709376 benign not specified 2017-06-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769470 SCV000900865 likely benign Cardiomyopathy 2017-05-31 criteria provided, single submitter clinical testing
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV001089624 SCV001245101 benign Hypertrophic cardiomyopathy 2018-09-03 criteria provided, single submitter research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband(s) identified with this variant. For further information please feel free to contact us.

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