Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001417904 | SCV001620113 | likely benign | RASopathy | 2022-07-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000951499 | SCV001943970 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002321498 | SCV002606432 | likely benign | Cardiovascular phenotype | 2022-08-29 | 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. |
Genome- |
RCV002467522 | SCV002763242 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467521 | SCV002763243 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003398590 | SCV004122336 | likely benign | not specified | 2023-10-23 | criteria provided, single submitter | clinical testing |