Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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 | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000038328 | SCV000709376 | benign | not specified | 2017-06-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769470 | SCV000900865 | likely benign | Cardiomyopathy | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Agnes Ginges Centre for Molecular Cardiology, |
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. |
Gene |
RCV001675595 | SCV001892596 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038328 | SCV002074495 | benign | not specified | 2022-01-31 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000038328 | SCV001925052 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001675595 | SCV001974919 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Cohesion Phenomics | RCV001089624 | SCV003803076 | likely benign | Hypertrophic cardiomyopathy | 2022-09-29 | no assertion criteria provided | clinical testing |