Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616838 | SCV000731089 | benign | not specified | 2017-11-01 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000616838 | SCV001361614 | benign | not specified | 2019-08-12 | criteria provided, single submitter | clinical testing | Variant summary: SOS2 c.3490-4dupT alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.55 in 131430 control chromosomes, suggesting that it is the major allele and therefore benign. A ClinVar submission (evaluation after 2014) cite the variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
Labcorp Genetics |
RCV001515859 | SCV001724026 | benign | Noonan syndrome 9 | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001515859 | SCV002057531 | benign | Noonan syndrome 9 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813529 | SCV002060674 | benign | Noonan syndrome and Noonan-related syndrome | 2021-04-16 | criteria provided, single submitter | clinical testing |