Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444503 | SCV000525425 | likely benign | not specified | 2016-03-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV002058908 | SCV002479969 | likely benign | Intellectual disability, autosomal dominant 8 | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002525383 | SCV003555883 | uncertain significance | Inborn genetic diseases | 2021-05-20 | criteria provided, single submitter | clinical testing | The c.1198-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before exon 9 (coding exon 9) of the GRIN1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |