Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001854644 | SCV002212890 | benign | Kabuki syndrome | 2024-07-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005008029 | SCV005636384 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-06-09 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121427 | SCV000085619 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Prevention |
RCV004758645 | SCV005367506 | uncertain significance | KMT2D-related disorder | 2024-03-09 | no assertion criteria provided | clinical testing | The KMT2D c.11120G>A variant is predicted to result in the amino acid substitution p.Arg3707Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of East Asian descent in gnomAD, which may be too common to be a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |