Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Phillips Lab, |
RCV001731431 | SCV001985004 | benign | Acute intermittent porphyria | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Phillips Lab, |
RCV001731432 | SCV001985013 | benign | Variegate porphyria | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Phillips Lab, |
RCV001731433 | SCV001985018 | benign | Hereditary coproporphyria | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Phillips Lab, |
RCV001731521 | SCV001985024 | benign | Protoporphyria, erythropoietic, 1 | 2021-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001699005 | SCV002401195 | likely benign | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001699005 | SCV004151434 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ABCB6: BS1, BS2 |
OMIM | RCV000201942 | SCV000256867 | affects | Langereis blood group | 2013-02-01 | no assertion criteria provided | literature only | |
Clinical Genetics, |
RCV001699005 | SCV001919038 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001699005 | SCV001973855 | uncertain significance | not provided | no assertion criteria provided | clinical testing |