Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146196 | SCV000193431 | likely benign | not specified | 2015-04-22 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659703 | SCV000781550 | likely benign | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001404137 | SCV001606028 | likely benign | Kabuki syndrome | 2025-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001709495 | SCV001938643 | benign | not provided | 2020-02-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30459467) |
Center for Genomics, |
RCV003224166 | SCV003920125 | uncertain significance | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2021-03-30 | criteria provided, single submitter | clinical testing | KMT2D NM_003482.3 exon 10 p.Gln836Lys (c.2506C>A): This variant has not been reported in the literature but is present in 0.03% (40/100306) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/12-49444960-G-T). This variant is present in ClinVar (Variation ID:158754). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Breakthrough Genomics, |
RCV001709495 | SCV005213081 | likely benign | not provided | criteria provided, single submitter | not provided |