Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001367545 | SCV001563898 | likely benign | DNA ligase IV deficiency | 2023-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002269367 | SCV002553174 | uncertain significance | not provided | 2022-01-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002547871 | SCV003585954 | uncertain significance | Inborn genetic diseases | 2021-07-14 | criteria provided, single submitter | clinical testing | The c.1169G>A (p.S390N) alteration is located in exon 2 (coding exon 1) of the LIG4 gene. This alteration results from a G to A substitution at nucleotide position 1169, causing the serine (S) at amino acid position 390 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |