Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231016 | SCV000291193 | likely benign | Aortic aneurysm, familial thoracic 7 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002518361 | SCV003547189 | uncertain significance | Inborn genetic diseases | 2021-10-22 | criteria provided, single submitter | clinical testing | The c.2140+6G>A intronic alteration consists of a G to A substitution 6 nucleotides after exon 15 (coding exon 12) of the MYLK gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |