Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001508086 | SCV001714007 | likely pathogenic | not provided | 2020-03-23 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Invitae | RCV002564229 | SCV003457602 | pathogenic | Nemaline myopathy 2 | 2023-06-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1163217). This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is present in population databases (rs377182240, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln3907*) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). |
Baylor Genetics | RCV003470847 | SCV004200063 | likely pathogenic | Arthrogryposis multiplex congenita 6 | 2023-10-21 | criteria provided, single submitter | clinical testing |