Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732649 | SCV000860625 | likely benign | not specified | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Cirak Lab, |
RCV000855500 | SCV000996630 | likely pathogenic | Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita | 2019-06-28 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000903196 | SCV001047652 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000903196 | SCV002559389 | uncertain significance | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect on Wnt5a-ROR2 pathway regulation (Gui et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in the heterozygous state in patients with short stature in published literature, although familial segregation information was not included (Gui et al., 2021); Observed with a variant on the opposite allele (in trans) in fetuses with fetal akinesia and with features of thanatophoric dysplasia in published literature, but additional clinical information was not provided (Pergande et al., 2020; Chen et al., 2020); This variant is associated with the following publications: (PMID: 32502767, 34426522, 33937263, 31680123) |
Fulgent Genetics, |
RCV005047000 | SCV005682299 | uncertain significance | Brachydactyly type B1; Autosomal recessive Robinow syndrome | 2024-05-06 | criteria provided, single submitter | clinical testing | |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV001310261 | SCV001499871 | likely pathogenic | Short stature | 2021-01-31 | no assertion criteria provided | curation |