Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV001730102 | SCV001976939 | likely pathogenic | Autosomal dominant hypocalcemia 1 | 2021-10-01 | criteria provided, single submitter | clinical testing | PM2, PP2, PP3, PP4, PP5 |
Gene |
RCV002265031 | SCV002546767 | likely pathogenic | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34008892, Legro2021[abstract]) |
Fulgent Genetics, |
RCV002477905 | SCV002785947 | likely pathogenic | Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 | 2022-04-02 | criteria provided, single submitter | clinical testing |