Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000239180 | SCV000297054 | uncertain significance | not specified | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000290737 | SCV000358640 | uncertain significance | Congenital disorder of glycosylation type 1t | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000340998 | SCV000358641 | uncertain significance | Congenital disorder of glycosylation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000290737 | SCV001047342 | likely benign | Congenital disorder of glycosylation type 1t | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000290737 | SCV000606925 | not provided | Congenital disorder of glycosylation type 1t | 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. |