Molecular Genetics Laboratory (Biocruces Bizkaia Health Research Institute)
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 37
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Adult hypophosphatasia | 2 | Mar 8, 2024 |
| Autosomal recessive hypophosphatemic bone disease | 3 | Mar 8, 2024 |
| DiGeorge syndrome | 1 | Mar 8, 2024 |
| Distal monosomy 10p | 1 | Mar 8, 2024 |
| Familial hypocalciuric hypercalcemia 1 | 14 | Mar 8, 2024 |
| Familial hypocalciuric hypercalcemia 3 | 2 | Mar 8, 2024 |
| Hypercalcemia, infantile, 1 | 3 | Mar 8, 2024 |
| Hypercalcemia, infantile, 2 | 2 | Mar 8, 2024 |
| Hyperparathyroidism 4 | 2 | Mar 8, 2024 |
| Hypophosphatemic nephrolithiasis/osteoporosis 2 | 2 | Mar 8, 2024 |
| Primary hypomagnesemia | 1 | Jun 25, 2020 |
| Renal hypomagnesemia 5 with ocular involvement | 1 | Mar 8, 2024 |
| Vitamin D-dependent rickets type II with alopecia | 2 | Mar 8, 2024 |
| Vitamin D-dependent rickets, type 1A | 1 | Mar 8, 2024 |