Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000523895 | SCV000616589 | benign | RASopathy | 2017-05-09 | reviewed by expert panel | curation | The filtering allele frequency of the c.141C>T (p.Asp47=) variant in the MAP2K2 gene is 0.054% (9/8646) of East Asian chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581) |
Gene |
RCV001637063 | SCV001848538 | benign | not provided | 2020-01-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813495 | SCV002060570 | benign | Noonan syndrome and Noonan-related syndrome | 2021-06-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000523895 | SCV002419317 | benign | RASopathy | 2023-03-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002395242 | SCV002699758 | likely benign | Cardiovascular phenotype | 2021-05-13 | 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. |