Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053271 | SCV001217527 | benign | Adams-Oliver syndrome 5 | 2023-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160421 | SCV003861105 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-12 | criteria provided, single submitter | clinical testing | The c.3700C>T (p.R1234W) alteration is located in exon 23 (coding exon 23) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 3700, causing the arginine (R) at amino acid position 1234 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |