Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001347835 | SCV001542115 | benign | Adams-Oliver syndrome 5 | 2022-12-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004531145 | SCV004728084 | uncertain significance | NOTCH1-related disorder | 2023-11-22 | criteria provided, single submitter | clinical testing | The NOTCH1 c.365T>G variant is predicted to result in the amino acid substitution p.Leu122Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0068% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |