Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002018356 | SCV002302697 | likely benign | Hereditary hemorrhagic telangiectasia | 2022-08-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003418339 | SCV004107374 | uncertain significance | ENG-related disorder | 2022-11-23 | criteria provided, single submitter | clinical testing | The ENG c.609G>C variant is predicted to result in the amino acid substitution p.Leu203Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-130588054-C-G). 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. |