Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315082 | SCV000739411 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-02-23 | criteria provided, single submitter | clinical testing | The c.1972A>G (p.K658E) alteration is located in exon 12 (coding exon 12) of the NOTCH1 gene. This alteration results from a A to G substitution at nucleotide position 1972, causing the lysine (K) at amino acid position 658 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV000703349 | SCV000832246 | benign | Adams-Oliver syndrome 5 | 2023-10-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001561367 | SCV001783963 | uncertain significance | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000703349 | SCV002553916 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270881 | SCV002553917 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |