Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090556 | SCV001246167 | pathogenic | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090556 | SCV001577180 | likely pathogenic | not provided | 2022-09-24 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 9193). This variant has been observed in individuals with multiple epiphyseal dysplasia (PMID: 9887340, 21922596; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.1417_1419dup, results in the insertion of 1 amino acid(s) of the COMP protein (p.Asp473dup), but otherwise preserves the integrity of the reading frame. |
Mendelics | RCV000009771 | SCV002519424 | pathogenic | Multiple epiphyseal dysplasia type 1 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009771 | SCV000029992 | pathogenic | Multiple epiphyseal dysplasia type 1 | 1999-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000033881 | SCV000057789 | not provided | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | no assertion provided | literature only | ||
Gene |
RCV002054431 | SCV000086687 | not provided | Multiple epiphyseal dysplasia | no assertion provided | literature only |