Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000853475 | SCV000996392 | likely pathogenic | Hyperparathyroidism, transient neonatal | 2019-05-21 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Hyperparathyroidism, transient neonatal, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PP3, PS3-Moderate, PM3 . |