Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000530797 | SCV000626030 | likely benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004023741 | SCV004864142 | uncertain significance | not specified | 2020-06-15 | criteria provided, single submitter | clinical testing | The c.650-6G>A intronic alteration consists of a G to A substitution 6 nucleotides before coding exon 7 in the IKBKAP gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001271216 | SCV001452218 | likely benign | Familial dysautonomia | 2020-04-16 | no assertion criteria provided | clinical testing |