Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559622 | SCV000651145 | 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 |
RCV001700216 | SCV001947355 | benign | not provided | 2021-01-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28356264) |
Ambry Genetics | RCV002367926 | SCV002665328 | likely benign | Cardiovascular phenotype | 2019-08-15 | 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. |
Ce |
RCV001700216 | SCV004161049 | benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | FLNC: BS1, BS2 |
Clinical Genetics, |
RCV001701077 | SCV001923210 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001700216 | SCV001927061 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001700216 | SCV001964813 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001700216 | SCV002036161 | likely benign | not provided | no assertion criteria provided | clinical testing |