Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000709904 | SCV004142515 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | EFCAB5: BS2 |
Genome |
RCV000709904 | SCV000840245 | not provided | not provided | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |