Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000400462 | SCV000336858 | pathogenic | not provided | 2015-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365311 | SCV002623840 | pathogenic | Inborn genetic diseases | 2016-01-29 | criteria provided, single submitter | clinical testing | The c.3883_3884delAG pathogenic mutation, located in coding exon 8 of the BCOR gene, results from a deletion of two nucleotides between nucleotide positions 3883 and 3884, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Donald Williams Parsons Laboratory, |
RCV000505675 | SCV000599903 | other | Glioblastoma | 2016-05-01 | no assertion criteria provided | clinical testing |