Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000614788 | SCV000721824 | likely benign | not specified | 2017-11-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001855221 | SCV002254400 | benign | Kabuki syndrome | 2024-03-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005010591 | SCV005636822 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-04-20 | criteria provided, single submitter | clinical testing |