Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000952745 | SCV000531405 | benign | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12384774, 16086317, 11536079) |
PXE International | RCV000499138 | SCV000588941 | benign | Autosomal recessive inherited pseudoxanthoma elasticum | 2021-03-01 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000952745 | SCV001099267 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253446 | SCV002524237 | benign | Arterial calcification, generalized, of infancy, 2 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000499138 | SCV002524238 | benign | Autosomal recessive inherited pseudoxanthoma elasticum | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253445 | SCV002524240 | benign | Pseudoxanthoma elasticum, forme fruste | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000952745 | SCV005290318 | benign | not provided | criteria provided, single submitter | not provided |