Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISCA site 1 | RCV000512597 | SCV000586434 | uncertain significance | See cases | 2018-02-14 | no assertion criteria provided | clinical testing | There was an additional duplication in region, complex case. |
Genome |
RCV000509445 | SCV000607120 | not provided | Chromosome 15q13.3 microdeletion syndrome | 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. | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001006671 | SCV001166230 | pathogenic | not provided | 2019-04-16 | no assertion criteria provided | clinical testing |