Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002525011 | SCV003194760 | uncertain significance | not provided | 2022-07-22 | criteria provided, single submitter | clinical testing | Reported in a patient with features consistent with hypophosphatasia in published literature (Jandl et al., 2021); In-frame deletion of two amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33191482, 34673643) |
Baylor Genetics | RCV003464104 | SCV004190614 | likely pathogenic | Adult hypophosphatasia | 2023-06-05 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000515669 | SCV000611832 | likely pathogenic | Low alkaline phosphatase | no assertion criteria provided | clinical testing |