Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISTH- |
RCV003313856 | SCV004013045 | uncertain significance | Bernard-Soulier syndrome, type A2, autosomal dominant | criteria provided, single submitter | clinical testing | ||
Prevention |
RCV003396990 | SCV004105388 | uncertain significance | GP1BA-related disorder | 2023-06-13 | criteria provided, single submitter | clinical testing | The GP1BA c.92T>A variant is predicted to result in the amino acid substitution p.Val31Glu. 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. An alternate missense variant at the same amino acid position has been reported in a patient with Bernard-Soulier syndrome and her mildly affected father (Ali et al. 2017. PubMed ID: 26849716). At this time, the clinical significance of the p.Val31Glu variant is uncertain due to the absence of conclusive functional and genetic evidence. |