Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002312815 | SCV000739361 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2016-03-25 | criteria provided, single submitter | clinical testing | The c.7645C>T (p.R2549C) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 7645, causing the arginine (R) at amino acid position 2549 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV001417381 | SCV001619581 | likely benign | Adams-Oliver syndrome 5 | 2024-12-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001588969 | SCV001823466 | likely benign | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26582918, 28074886, 24728327, 28880023) |
ITMI | RCV000121698 | SCV000085896 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |