Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000721916 | SCV000996389 | 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; PP1; PS3-Moderate. |
OMIM | RCV000721916 | SCV000853067 | pathogenic | Hyperparathyroidism, transient neonatal | 2018-11-14 | no assertion criteria provided | literature only |