Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612571 | SCV000719654 | likely benign | not specified | 2017-06-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001417859 | SCV001620065 | likely benign | RASopathy | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813520 | SCV002060633 | benign | Noonan syndrome and Noonan-related syndrome | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404639 | SCV002708917 | likely benign | Cardiovascular phenotype | 2020-01-07 | 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- |
RCV002467928 | SCV002763397 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467927 | SCV002763398 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |