Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001241159 | SCV001414156 | likely benign | RASopathy | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002366065 | SCV002623853 | uncertain significance | Cardiovascular phenotype | 2024-08-22 | criteria provided, single submitter | clinical testing | The p.V128I variant (also known as c.382G>A), located in coding exon 4 of the SOS1 gene, results from a G to A substitution at nucleotide position 382. The valine at codon 128 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
Genome- |
RCV002468203 | SCV002763584 | uncertain significance | Noonan syndrome 4 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV002468202 | SCV002763585 | uncertain significance | Fibromatosis, gingival, 1 | criteria provided, single submitter | clinical testing | ||
Fulgent Genetics, |
RCV002484323 | SCV002797649 | uncertain significance | Fibromatosis, gingival, 1; Noonan syndrome 4 | 2021-08-06 | criteria provided, single submitter | clinical testing |