Total submissions: 3
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 | |
Invitae | RCV001316081 | SCV001506683 | benign | Kabuki syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224188 | SCV003920134 | uncertain significance | Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism 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. |