Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003145245 | SCV003833554 | uncertain significance | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003989124 | SCV004805770 | uncertain significance | Visceral neuropathy, familial, 1, autosomal recessive | 2024-03-29 | criteria provided, single submitter | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000985171 | SCV001133177 | likely pathogenic | Lethal congenital contracture syndrome 2 | 2019-09-26 | no assertion criteria provided | clinical testing |