Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002264614 | SCV002543410 | uncertain significance | Autoinflammatory syndrome | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003418428 | SCV004118649 | uncertain significance | ELANE-related disorder | 2022-08-26 | criteria provided, single submitter | clinical testing | The ELANE c.228C>G variant is predicted to result in the amino acid substitution p.Asn76Lys. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |