Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
JKU Lab, |
RCV001815061 | SCV002061900 | likely pathogenic | Hypophosphatasia | 2021-12-16 | criteria provided, single submitter | clinical testing | This variant is absent from large population studies. Functional studies performed at the JKU Hoegler lab showed reduced ALPL activity (https://alplmutationdatabase.jku.at/table/). ACMG Criteria used for classification: PS3_mod, PM2_sup, PM3_sup, PP2_sup, PP3_sup, PP4_mod. |