Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Cirak Lab, |
RCV000855494 | SCV000996624 | likely pathogenic | Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita | 2019-06-28 | criteria provided, single submitter | research | |
Ce |
RCV001310323 | SCV001500064 | likely pathogenic | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001310323 | SCV003805563 | likely pathogenic | not provided | 2023-02-19 | criteria provided, single submitter | clinical testing | Observed with an additional EARS2 variant, phase unknown, in a patient with fetal akinesia as well as microcephaly, porencephaly and lissencephaly in published literature (Pergande et al., 2019); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25058219, 31680123) |