Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001283779 | SCV001522025 | uncertain significance | Autosomal recessive congenital ichthyosis 2 | 2019-08-17 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Biochemical Molecular Genetic Laboratory, |
RCV001283779 | SCV001469154 | likely pathogenic | Autosomal recessive congenital ichthyosis 2 | 2020-11-12 | no assertion criteria provided | clinical testing |