Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISCA site 1 | RCV000511274 | SCV000585258 | likely pathogenic | See cases | 2014-08-01 | no assertion criteria provided | clinical testing | |
Genome |
RCV001825332 | SCV002075238 | not provided | Chromosome 16p11.2 duplication syndrome | no assertion provided | phenotyping only | Variant classified as other and reported on 08-31-2021 by Lab or GTR ID 26957. 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. |