Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000018106 | SCV001739302 | pathogenic | Hypoparathyroidism, deafness, renal disease syndrome | 2019-09-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018106 | SCV000038385 | pathogenic | Hypoparathyroidism, deafness, renal disease syndrome | 2007-04-01 | no assertion criteria provided | literature only |