Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001998810 | SCV002276819 | benign | Kabuki syndrome | 2024-02-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003395335 | SCV004130785 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | KMT2D: PP2, BP4, BS2 |
Fulgent Genetics, |
RCV005008352 | SCV005635973 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-02-07 | criteria provided, single submitter | clinical testing |