Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000576419 | SCV000678212 | uncertain significance | Weill-Marchesani syndrome 3 | 2017-08-01 | criteria provided, single submitter | clinical testing | LTBP2 NM_000428.2 exon7 p.Pro537Thr (c.1609C>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |