Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000853510 | SCV000996458 | likely pathogenic | Goldblatt syndrome | 2019-06-27 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Odontochondrodysplasia, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1. |
OMIM | RCV000853510 | SCV000886533 | pathogenic | Goldblatt syndrome | 2021-04-12 | no assertion criteria provided | literature only |