Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002311944 | SCV000672042 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2022-04-01 | criteria provided, single submitter | clinical testing | The c.250-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 2 in the SMAD4 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV000902773 | SCV001047209 | likely benign | Juvenile polyposis syndrome | 2023-05-27 | criteria provided, single submitter | clinical testing |