Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002002019 | SCV002207713 | likely benign | Kabuki syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224592 | SCV003920132 | likely benign | Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 2022-07-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:1436140). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |