Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194367 | SCV000248573 | uncertain significance | not specified | 2014-07-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000814493 | SCV000954906 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV003338456 | SCV004047824 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2O | criteria provided, single submitter | clinical testing | The splice site c.1285-6C>T variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is observed in 0.004 % alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The variant has been reported in ClinVar as uncertain significance. This sequence change falls in intron 15 of the POMGNT1 gene. It does not directly change the encoded amino acid sequence of the POMGNT1 protein. The available evidence is currently insufficient to determine the role of this variant in disease. For these reasons, it has been classified as a Variant of Uncertain Significance | |
Natera, |
RCV001828017 | SCV002089605 | uncertain significance | Muscle eye brain disease | 2019-10-28 | no assertion criteria provided | clinical testing |