Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003146101 | SCV003834692 | uncertain significance | Pyruvate dehydrogenase E3 deficiency | 2022-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004246134 | SCV004855985 | uncertain significance | Inborn genetic diseases | 2023-10-05 | criteria provided, single submitter | clinical testing | The c.1343A>G (p.D448G) alteration is located in exon 12 (coding exon 12) of the DLD gene. This alteration results from a A to G substitution at nucleotide position 1343, causing the aspartic acid (D) at amino acid position 448 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |