Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037598 | SCV000061258 | likely benign | not specified | 2011-09-07 | criteria provided, single submitter | clinical testing | Pro2Pro in exon 1 of MAP2K1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and it is not located ne ar a splice junction. |
Labcorp Genetics |
RCV000525445 | SCV000659029 | likely benign | RASopathy | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636615 | SCV001852517 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037598 | SCV001983559 | benign | not specified | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813304 | SCV002060561 | likely benign | Noonan syndrome and Noonan-related syndrome | 2019-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371810 | SCV002668100 | likely benign | Cardiovascular phenotype | 2022-08-10 | 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 |
RCV001636615 | SCV004132708 | likely benign | not provided | 2024-10-01 | criteria provided, single submitter | clinical testing | MAP2K1: BP4, BP7 |