Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001732462 | SCV001982556 | uncertain significance | not provided | 2021-09-20 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV002324172 | SCV002610103 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-17 | criteria provided, single submitter | clinical testing | The c.3160C>A (p.P1054T) alteration is located in exon 19 (coding exon 19) of the NOTCH1 gene. This alteration results from a C to A substitution at nucleotide position 3160, causing the proline (P) at amino acid position 1054 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003586305 | SCV004269296 | benign | Adams-Oliver syndrome 5 | 2023-01-16 | criteria provided, single submitter | clinical testing |