Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000199881 | SCV000250683 | uncertain significance | not provided | 2020-06-23 | criteria provided, single submitter | clinical testing | 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 |
Labcorp Genetics |
RCV000548962 | SCV000637285 | likely benign | Shprintzen-Goldberg syndrome | 2025-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315617 | SCV000739603 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-04-08 | criteria provided, single submitter | clinical testing | The c.1619C>T (p.A540V) alteration is located in exon 5 (coding exon 5) of the SKI gene. This alteration results from a C to T substitution at nucleotide position 1619, causing the alanine (A) at amino acid position 540 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |