Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194945 | SCV000247406 | likely benign | not specified | 2015-05-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726864 | SCV000534911 | benign | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083390 | SCV000651184 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726864 | SCV000703697 | uncertain significance | not provided | 2017-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415824 | SCV002679746 | benign | Cardiovascular phenotype | 2019-01-09 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000194945 | SCV004029316 | likely benign | not specified | 2023-07-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486765 | SCV004240683 | benign | Cardiomyopathy | 2023-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000726864 | SCV002033916 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000194945 | SCV002034612 | benign | not specified | no assertion criteria provided | clinical testing |