Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003434763 | SCV004150617 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | DRD3: BP4 |
Ambry Genetics | RCV004364591 | SCV004860688 | uncertain significance | not specified | 2024-10-08 | criteria provided, single submitter | clinical testing | The c.155T>C (p.M52T) alteration is located in exon 2 (coding exon 1) of the DRD3 gene. This alteration results from a T to C substitution at nucleotide position 155, causing the methionine (M) at amino acid position 52 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |