Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kasturba Medical College, |
RCV001250924 | SCV001167674 | likely pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2020-02-03 | criteria provided, single submitter | clinical testing | The variant is considered to be likely pathogenic as it qualifies following criteria of ACMG: PM1, PM2, PM5, PP2,PP3 and PP4 |