Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001338651 | SCV001532337 | benign | Adams-Oliver syndrome 5 | 2022-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004035867 | SCV003631782 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-07-08 | criteria provided, single submitter | clinical testing | The c.7126C>A (p.Q2376K) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a C to A substitution at nucleotide position 7126, causing the glutamine (Q) at amino acid position 2376 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |