Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246933 | SCV000310366 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001722321 | SCV000526232 | likely benign | not provided | 2019-07-15 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771977 | SCV000904931 | likely benign | Cardiomyopathy | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000863414 | SCV001004067 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-10-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001722321 | SCV002497386 | likely benign | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356347 | SCV002650356 | likely benign | Cardiovascular phenotype | 2019-08-29 | 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. |