Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV003320545 | SCV004024950 | likely pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000008862 | SCV000029072 | pathogenic | Familial hypocalciuric hypercalcemia 1 | 2007-11-01 | no assertion criteria provided | literature only |