Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000000580 | SCV001140909 | benign | Protoporphyria, erythropoietic, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000000580 | SCV001368183 | likely benign | Protoporphyria, erythropoietic, 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely benign. |
Labcorp Genetics |
RCV001520174 | SCV001729223 | benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000000580 | SCV001933421 | benign | Protoporphyria, erythropoietic, 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001520174 | SCV001950492 | benign | not provided | 2018-11-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 8280787, 1729699, 27884173, 26789144) |
Institute of Human Genetics, |
RCV000000580 | SCV002496158 | uncertain significance | Protoporphyria, erythropoietic, 1 | 2021-12-08 | criteria provided, single submitter | clinical testing | ACMG categories: PS5,BS2,BP6,BP7 |
OMIM | RCV000000580 | SCV000020729 | pathogenic | Protoporphyria, erythropoietic, 1 | 1992-01-01 | no assertion criteria provided | literature only | |
Centre for Mendelian Genomics, |
RCV000415389 | SCV000492646 | likely benign | Jaundice; Erythema | 2016-01-25 | no assertion criteria provided | clinical testing |