Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000616315 | SCV000730877 | likely benign | not specified | 2018-01-04 | 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. |
Ambry Genetics | RCV002314171 | SCV000848625 | uncertain significance | Inborn genetic diseases | 2016-12-30 | criteria provided, single submitter | clinical testing | The p.F5L variant (also known as c.13T>C), located in coding exon 1 of the ALG13 gene, results from a T to C substitution at nucleotide position 13. The phenylalanine at codon 5 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly 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. |
Invitae | RCV001033980 | SCV001197304 | likely benign | Developmental and epileptic encephalopathy, 36 | 2024-01-24 | criteria provided, single submitter | clinical testing |