Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000853512 | SCV000996461 | pathogenic | Achondrogenesis, type IA | 2019-06-27 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Achondrogenesis 1A, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1, PS3-Moderate. |