Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000338962 | SCV000472161 | uncertain significance | Intellectual Disability, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000503076 | SCV000597534 | likely benign | not specified | 2015-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317856 | SCV000850286 | uncertain significance | Inborn genetic diseases | 2017-10-27 | criteria provided, single submitter | clinical testing | The p.S1236R variant (also known as c.3708T>G), located in coding exon 23 of the TRAPPC9 gene, results from a T to G substitution at nucleotide position 3708. The serine at codon 1236 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV000913653 | SCV001058806 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001252372 | SCV001428127 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |