Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220265 | SCV000270860 | likely benign | not specified | 2015-06-26 | criteria provided, single submitter | clinical testing | c.87+12G>T in intron 1 of SOS1: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and splice variants are not a known cause of Noonan syndrome. |
Labcorp Genetics |
RCV002057147 | SCV002483717 | likely benign | RASopathy | 2022-07-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467681 | SCV002763616 | likely benign | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002467680 | SCV002763617 | likely benign | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing |