Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222199 | SCV000270079 | likely benign | not specified | 2017-06-26 | criteria provided, single submitter | clinical testing | c.2584-5delC in intron 34 of COL11A2: This variant is not expected to have clin ical significance because this variant has been identified in 0.21% (254/121798) of European chromosomes including 2 homozygotes by the Genome Aggregation Datab ase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs555657704). Furthermore, computational tools do not predict an impact to splicing. |
Preventiongenetics, |
RCV000222199 | SCV000315348 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000322709 | SCV000462437 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000379548 | SCV000462438 | likely benign | Stickler Syndrome, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000268722 | SCV000462439 | likely benign | Fibrochondrogenesis 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000326574 | SCV000462440 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001579439 | SCV000566588 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000222199 | SCV000701767 | likely benign | not specified | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001579439 | SCV002394930 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001579439 | SCV002586110 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | COL11A2: BP4, BS2 |
Genome Diagnostics Laboratory, |
RCV001579439 | SCV001807245 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001579439 | SCV001972169 | likely benign | not provided | no assertion criteria provided | clinical testing |