Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729340 | SCV000856992 | uncertain significance | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003420292 | SCV004118602 | uncertain significance | TRMU-related condition | 2023-07-15 | criteria provided, single submitter | clinical testing | The TRMU c.74G>A variant is predicted to result in the amino acid substitution p.Arg25Lys. 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. |