Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415092 | SCV000492882 | likely pathogenic | Short stature; Hearing impairment; Developmental dysplasia of the hip; Scoliosis; Multiple epiphyseal dysplasia; Hypoplastic acetabulae | 2015-04-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144254 | SCV003832798 | likely pathogenic | not provided | 2022-02-14 | criteria provided, single submitter | clinical testing |