Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISCA site 1 | RCV000512076 | SCV000585232 | likely pathogenic | See cases | 2016-02-29 | no assertion criteria provided | clinical testing | |
Genome |
RCV000509377 | SCV000607128 | 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. |