Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409177 | SCV000487114 | likely pathogenic | Pyknodysostosis | 2016-10-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000409177 | SCV001737359 | likely pathogenic | Pyknodysostosis | 2021-06-10 | criteria provided, single submitter | clinical testing |