Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000586765 | SCV000524329 | benign | not provided | 2016-09-29 | 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, |
RCV000586765 | SCV000698752 | benign | not provided | 2017-04-17 | criteria provided, single submitter | clinical testing | Variant summary: The SOS2 c.88-6T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in a large, broad control population, ExAC in 41472/120656 control chromosomes (7805 homozygotes) at a frequency of 0.343721, which is approximately 137488 times the estimated maximal expected allele frequency of a pathogenic SOS2 variant (0.0000025), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
Invitae | RCV001515862 | SCV001724029 | benign | Noonan syndrome 9 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001515862 | SCV002763154 | benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing | ||
Clinical Genetics, |
RCV001706628 | SCV001919605 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001706628 | SCV001952931 | benign | not specified | no assertion criteria provided | clinical testing |