Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802441 | SCV000942273 | benign | Adams-Oliver syndrome 5 | 2023-06-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534706 | SCV003742452 | uncertain significance | Inborn genetic diseases | 2021-11-22 | criteria provided, single submitter | clinical testing | The c.3373G>A (p.A1125T) alteration is located in exon 21 (coding exon 21) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 3373, causing the alanine (A) at amino acid position 1125 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003432769 | SCV004162035 | uncertain significance | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | NOTCH1: PP2, BP4 |