Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001065816 | SCV001230800 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-11-15 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 859652). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant, c.400_408del, results in the deletion of 3 amino acid(s) of the FKTN protein (p.Gly134_Gln136del), but otherwise preserves the integrity of the reading frame. |
| Fulgent Genetics, |
RCV002479389 | SCV002781201 | uncertain significance | Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2021-11-22 | criteria provided, single submitter | clinical testing |