Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000548273 | SCV000659437 | likely benign | Adams-Oliver syndrome 5 | 2024-10-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001764631 | SCV001998881 | uncertain significance | not provided | 2020-01-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 477925; Landrum et al., 2016) |
Ambry Genetics | RCV002358626 | SCV002620875 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-11-14 | criteria provided, single submitter | clinical testing | The c.4027G>A (p.A1343T) alteration is located in exon 25 (coding exon 25) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 4027, causing the alanine (A) at amino acid position 1343 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |