Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546759 | SCV000641747 | benign | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577324 | SCV001804679 | likely benign | not provided | 2020-09-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002497132 | SCV002810806 | likely benign | Hyperekplexia 1; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 2021-12-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001577324 | SCV004010298 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | GPHN: BP4, BS2 |