Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000954076 | SCV001100684 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001262944 | SCV001441002 | uncertain significance | Acrofacial dysostosis Cincinnati type | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002547246 | SCV003745195 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.1511G>A (p.R504H) alteration is located in exon 12 (coding exon 12) of the POLR1A gene. This alteration results from a G to A substitution at nucleotide position 1511, causing the arginine (R) at amino acid position 504 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV000954076 | SCV004155140 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | POLR1A: BP4, BS2 |