Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652441 | SCV000774311 | likely benign | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001824855 | SCV002599645 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome |
RCV001824855 | SCV002074841 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 04-28-2020 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. |