Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000585615 | SCV000250684 | uncertain significance | not provided | 2020-08-14 | 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 a deleterious effect; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 213698; Landrum et al., 2016) |
Ce |
RCV000585615 | SCV000692596 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | SKI: PP2, BS2 |
Ambry Genetics | RCV002315618 | SCV000739608 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-04-28 | criteria provided, single submitter | clinical testing | The p.K626M variant (also known as c.1877A>T), located in coding exon 6 of the SKI gene, results from an A to T substitution at nucleotide position 1877. The lysine at codon 626 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV000763830 | SCV000894751 | uncertain significance | Shprintzen-Goldberg syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000763830 | SCV001224429 | likely benign | Shprintzen-Goldberg syndrome | 2023-09-08 | criteria provided, single submitter | clinical testing |