Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000836 | SCV001157906 | uncertain significance | Kabuki syndrome 1 | 2018-09-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001858913 | SCV002147942 | likely benign | Kabuki syndrome | 2024-06-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003392728 | SCV004130837 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | KMT2D: PP2, PP3 |
Fulgent Genetics, |
RCV005012433 | SCV005637192 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-04-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004545007 | SCV004765764 | uncertain significance | KMT2D-related disorder | 2024-02-13 | no assertion criteria provided | clinical testing | The KMT2D c.793C>T variant is predicted to result in the amino acid substitution p.Arg265Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |