Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416114 | SCV000493374 | uncertain significance | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | NEB: PM4, BP4 |
Gene |
RCV000416114 | SCV000570606 | likely benign | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32222963) |
Invitae | RCV000528021 | SCV000640589 | uncertain significance | Nemaline myopathy 2 | 2022-08-15 | criteria provided, single submitter | clinical testing | This variant, c.169_183dup, results in the insertion of 5 amino acid(s) of the NEB protein (p.Leu57_Ala61dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770886969, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 421412). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV000528021 | SCV001458312 | uncertain significance | Nemaline myopathy 2 | 2020-01-17 | no assertion criteria provided | clinical testing | |
Istanbul Faculty of Medicine, |
RCV003766690 | SCV004028466 | uncertain significance | Arthrogryposis multiplex congenita 6 | 2022-01-10 | no assertion criteria provided | clinical testing |