Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315138 | SCV000739510 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-22 | criteria provided, single submitter | clinical testing | The c.5572A>C (p.M1858L) alteration is located in exon 30 (coding exon 30) of the NOTCH1 gene. This alteration results from a A to C substitution at nucleotide position 5572, causing the methionine (M) at amino acid position 1858 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV000698240 | SCV000826894 | benign | Adams-Oliver syndrome 5 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001788302 | SCV002030841 | uncertain significance | not provided | 2021-11-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 520094; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918) |
Genome- |
RCV000698240 | SCV002553333 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270920 | SCV002553334 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |