Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Institute Rare Disease Group, |
RCV000586742 | SCV000693913 | uncertain significance | Schimke immunoosseous dysplasia | 2017-06-26 | criteria provided, single submitter | research | No reports in the literature identified for this variant. Seen as homozygous variant in 1 case in CMG with nephrotic syndrome. PM2: rare in reference population databases with AC=1 in gnomAD. PP3: In silico predicts damaging. |