Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004724571 | SCV005336246 | uncertain significance | NRP1-related disorder | 2024-09-26 | no assertion criteria provided | clinical testing | The NRP1 c.409C>G variant is predicted to result in the amino acid substitution p.Arg137Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, 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. |