Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000492211 | SCV000580991 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2016-05-04 | criteria provided, single submitter | clinical testing | Moderate segregation with disease (at least 3 informative meioses) for rare diseases.;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Other strong data supporting pathogenic classification |
Genomic Diagnostic Laboratory, |
RCV000767259 | SCV000897808 | uncertain significance | Von Hippel-Lindau syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing |