Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195263 | SCV000246822 | likely benign | not specified | 2015-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345688 | SCV002645811 | uncertain significance | Inborn genetic diseases | 2014-08-18 | criteria provided, single submitter | clinical testing | The p.G1701R variant (also known as c.5101G>A), located in coding exon 41 of the BRWD3 gene, results from a G to A substitution at nucleotide position 5101. The glycine at codon 1701 is replaced by arginine, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs200751676. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele was absent out of 2443 total male alleles studied. This amino acid position is not conserved on species alignment. 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 variant remains unclear. |
Invitae | RCV001701635 | SCV003284119 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000599839 | SCV000734794 | likely benign | Intellectual disability, X-linked 93 | no assertion criteria provided | clinical testing | ||
Centre de Biologie Pathologie Génétique, |
RCV001251698 | SCV001427439 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001701635 | SCV001927808 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701635 | SCV001975038 | likely benign | not provided | no assertion criteria provided | clinical testing |