Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000504018 | SCV000588364 | likely pathogenic | Autosomal recessive congenital ichthyosis 2 | 2017-06-18 | criteria provided, single submitter | clinical testing | |
Uitto Lab, |
RCV000504018 | SCV000920933 | pathogenic | Autosomal recessive congenital ichthyosis 2 | 2018-06-08 | criteria provided, single submitter | clinical testing |