Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV005006510 | SCV005636050 | uncertain significance | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-05-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004730576 | SCV005337748 | uncertain significance | KMT2D-related disorder | 2024-08-06 | no assertion criteria provided | clinical testing | The KMT2D c.3755G>A variant is predicted to result in the amino acid substitution p.Arg1252Gln. To our knowledge, this variant has not been reported in the literature in individuals with KMT2D-related disorders, nor has it been reported in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |