Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001901762 | SCV002176254 | pathogenic | not provided | 2021-11-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with multiple epiphyseal dysplasia and/or pseudoachondroplasia (PMID: 7670472, 21965141, 24595329). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.1120_1122del, results in the deletion of 1 amino acid(s) of the COMP protein (p.Asp374del), but otherwise preserves the integrity of the reading frame. |
MGZ Medical Genetics Center | RCV002290796 | SCV002579663 | likely pathogenic | Multiple epiphyseal dysplasia type 1 | 2021-11-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV002259406 | SCV000050599 | pathogenic | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 2002-05-01 | no assertion criteria provided | literature only |