Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679970 | SCV000807404 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory in trans with a known pathogenic mutation in two sibs with short rib polydactyly syndrome. |