Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000627668 | SCV000743096 | uncertain significance | Geleophysic dysplasia 1 | 2018-04-17 | no assertion criteria provided | clinical testing | The observed variant c.493G>A (p.Ala165Thr) is not reported in 1000 Genomes. Its minor allele frequency in ExAC database is 0.00001661. The in silico prediction of the given variant is disease causing by MutationTaster, Tolerated by SIFT, and probably damaging by PolyPhen. |