Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001756385 | SCV001985115 | benign | not provided | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002077185 | SCV002436079 | likely benign | Kabuki syndrome | 2024-10-23 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003227986 | SCV003924267 | uncertain significance | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2021-12-22 | criteria provided, single submitter | clinical testing | KMT2D NM_003482.4 exon 11 p.Ala899_Pro903del (c.2694_2708del): This variant has not been reported in the literature, but is present in 0.1% (30/26660) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-49444757-AGGCTCAGACAGGGCT-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 5 amino acids at position 899 to 903 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV004758822 | SCV005352907 | likely benign | KMT2D-related disorder | 2024-09-25 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |