Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001590359 | SCV001826232 | likely benign | not provided | 2020-12-08 | criteria provided, single submitter | clinical testing | In-frame insertion of 1 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV002573355 | SCV003286471 | uncertain significance | Kabuki syndrome | 2024-06-29 | criteria provided, single submitter | clinical testing | This variant, c.12662_12664dup, results in the insertion of 1 amino acid(s) of the KMT2D protein (p.Gln4221dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757932721, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. This variant has been observed in at least one individual who was not affected with KMT2D-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1218100). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV005005980 | SCV005634257 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2024-06-12 | criteria provided, single submitter | clinical testing |