Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001926157 | SCV002189644 | benign | Kabuki syndrome | 2024-11-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005006241 | SCV005636054 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-06-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004529052 | SCV004109442 | uncertain significance | KMT2D-related disorder | 2024-03-06 | no assertion criteria provided | clinical testing | The KMT2D c.3647C>A variant is predicted to result in the amino acid substitution p.Ala1216Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |