Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000378928 | SCV000332847 | pathogenic | not provided | 2015-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000378928 | SCV001812991 | likely pathogenic | not provided | 2024-02-14 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift 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; This variant is associated with the following publications: (PMID: 30564623) |
Labcorp Genetics |
RCV001855091 | SCV002236733 | pathogenic | Walker-Warburg congenital muscular dystrophy | 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: 281839). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is present in population databases (rs767865405, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Thr111Tyrfs*13) in the FKTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FKTN are known to be pathogenic (PMID: 17044012, 17878207, 18752264). |
Fulgent Genetics, |
RCV002487188 | SCV002785081 | likely pathogenic | 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 | 2021-09-12 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000412460 | SCV000486169 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 2016-04-08 | no assertion criteria provided | clinical testing |