Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523288 | SCV000618660 | uncertain significance | not provided | 2017-06-26 | criteria provided, single submitter | clinical testing | The c.3274-9_3274-6delTCTC variant in the COL2A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site in intron 46, and may cause abnormal gene splicing. The c.3274-9_3274-6delTCTC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3274-9_3274-6delTCTC as a variant of uncertain significance, |
Genome |
RCV000709797 | SCV000840122 | not provided | COL2A1-Related Disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |