Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624386 | SCV000742056 | pathogenic | Inborn genetic diseases | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000509301 | SCV000743900 | pathogenic | KBG syndrome | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000509301 | SCV000607366 | not provided | KBG 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. | |
Genome Diagnostics Laboratory, |
RCV000509301 | SCV000745883 | pathogenic | KBG syndrome | 2015-02-26 | no assertion criteria provided | clinical testing |