Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000663361 | SCV000784589 | uncertain significance | Porphobilinogen synthase deficiency | 2018-07-10 | no assertion criteria provided | clinical testing | The observed variant c.520C>T is not observed in 1000 Genomes. Its minor allele frequency in ExAC database is 0.0000248. The in silico prediction of the given variant is diseases causing by MutationTaster2, damaging by SIFT and probably damaging by PolyPhen2. |