Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics Group, |
RCV000714983 | SCV000845784 | pathogenic | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Spondylocarpotarsal synostosis syndrome | 2018-04-09 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001199085 | SCV001370080 | likely pathogenic | Arthrogryposis, distal, type 2B3 | 2019-12-02 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP5. |
OMIM | RCV000785647 | SCV000924282 | pathogenic | Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 2020-02-27 | no assertion criteria provided | literature only |