Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001589777 | SCV001815231 | likely pathogenic | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | Reported previously in a patient with nemaline myopathy who also harbored a second NEB variant; however phase was undetermined (Lehtokari et al., 2014); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33333461, 29669168, 29246625, 25205138) |
Fulgent Genetics, |
RCV002501944 | SCV002783579 | pathogenic | Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003474012 | SCV004200299 | pathogenic | Arthrogryposis multiplex congenita 6 | 2023-04-20 | criteria provided, single submitter | clinical testing |