Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000785646 | SCV000998861 | likely pathogenic | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 2019-08-21 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Contractures, pterygia, and variable skeletal fusions syndrome 1A, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PM1, PM6. |
OMIM | RCV000785646 | SCV000924281 | pathogenic | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 2020-02-27 | no assertion criteria provided | literature only |