Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724252 | SCV000230582 | uncertain significance | not provided | 2014-12-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081189 | SCV000651147 | 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 | |
Gene |
RCV000724252 | SCV000719133 | benign | not provided | 2020-04-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362918 | SCV002665176 | likely benign | Cardiovascular phenotype | 2019-03-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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, |
RCV001795298 | SCV004038057 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724252 | SCV005093465 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | FLNC: BP4, BS1, BS2 |
Clinical Genetics, |
RCV001795298 | SCV002034350 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000724252 | SCV002038352 | likely benign | not provided | no assertion criteria provided | clinical testing |