Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420201 | SCV001622621 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PM1_moderate;PM2_supporting;PM6_moderate;PP2_supporting;PP3_supporting |
Institute of Medical and Molecular Genetics, |
RCV001706733 | SCV001934199 | likely pathogenic | Segmental undergrowth associated with mainly venous malformation with capillary component | 2021-04-06 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV002464456 | SCV002759323 | pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome | 2022-12-07 | criteria provided, single submitter | clinical testing | |
Medical Genetics Laboratory, |
RCV001526502 | SCV001736925 | pathogenic | Angioosteohypertrophic syndrome | 2021-06-06 | no assertion criteria provided | clinical testing |