Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853283 | SCV000996117 | pathogenic | Stickler syndrome type 1 | 2018-03-14 | criteria provided, single submitter | clinical testing | This frameshifting variant is predicted to generate a premature termination codon and have a loss-of-function effect. This variant has neither been observed in the ExAC or gnomAD population databases nor reported in the published literature to our knowledge. Based on the available evidence, this variant is classified as pathogenic. |