Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174077 | SCV000225315 | uncertain significance | not provided | 2014-12-08 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001316081 | SCV001506683 | benign | Kabuki syndrome | 2024-12-17 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224188 | SCV003920134 | uncertain significance | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.007% (3/41452) (https://gnomad.broadinstitute.org/variant/12-49049699-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:193866). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV004758660 | SCV005353345 | uncertain significance | KMT2D-related disorder | 2024-04-25 | no assertion criteria provided | clinical testing | The KMT2D c.3889C>T variant is predicted to result in the amino acid substitution p.Arg1297Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of European (Finnish) descent in gnomAD. 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. |