Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693949 | SCV000822373 | likely benign | RASopathy | 2023-09-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001551716 | SCV001772283 | likely benign | not provided | 2020-10-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813548 | SCV002060882 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360759 | SCV002623880 | uncertain significance | Cardiovascular phenotype | 2021-09-29 | criteria provided, single submitter | clinical testing | The p.T1279I variant (also known as c.3836C>T), located in coding exon 23 of the SOS1 gene, results from a C to T substitution at nucleotide position 3836. The threonine at codon 1279 is replaced by isoleucine, an amino acid with similar properties. This alteration was identified in a control cohort in a study focused on individuals with melanoma (Pritchard AL et al. PLoS One, 2018 Apr;13:e0194098). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155287 | SCV003844640 | uncertain significance | not specified | 2023-02-13 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001551716 | SCV004224873 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing | BP4 |
Service de Génétique Moléculaire, |
RCV001261116 | SCV001438523 | likely benign | Noonan syndrome | no assertion criteria provided | clinical testing |