Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544787 | SCV000657808 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776320 | SCV000911653 | likely benign | Cardiomyopathy | 2018-10-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001702808 | SCV002496941 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | LMNA: BP4, BP7 |
Ambry Genetics | RCV002413637 | SCV002714979 | likely benign | Cardiovascular phenotype | 2019-03-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Genome Diagnostics Laboratory, |
RCV001702808 | SCV001929207 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702808 | SCV001970247 | likely benign | not provided | no assertion criteria provided | clinical testing |