Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194018 | SCV000248270 | uncertain significance | not specified | 2015-06-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002468937 | SCV000491586 | uncertain significance | not provided | 2022-12-19 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (HGMD); 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 |
RCV000709916 | SCV000840258 | not provided | Noonan syndrome 6 | 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. |