Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815309 | SCV000955758 | benign | Adams-Oliver syndrome 5 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002305542 | SCV002599747 | uncertain significance | not provided | 2022-11-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Ambry Genetics | RCV002453853 | SCV002616435 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-02-18 | criteria provided, single submitter | clinical testing | The c.3632G>A (p.R1211Q) alteration is located in exon 22 (coding exon 22) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 3632, causing the arginine (R) at amino acid position 1211 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002501119 | SCV002791161 | uncertain significance | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-10-04 | criteria provided, single submitter | clinical testing |