Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Uitto Lab, |
RCV000782405 | SCV000920926 | likely pathogenic | Autosomal recessive congenital ichthyosis 2 | 2018-06-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000782405 | SCV001522026 | uncertain significance | Autosomal recessive congenital ichthyosis 2 | 2019-07-31 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |