Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000402862 | SCV000462221 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000310865 | SCV000462222 | likely benign | Fibrochondrogenesis 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000365478 | SCV000462223 | likely benign | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000268653 | SCV000462224 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000314487 | SCV000462225 | likely benign | Stickler Syndrome, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000607000 | SCV000712188 | likely benign | not specified | 2016-06-09 | criteria provided, single submitter | clinical testing | p.Tyr1624Tyr in exon 65 of COL11A2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, and it is not lo cated within the splice consensus sequence. It has been identified in 0.4% (6/14 34) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs372250466). |
Gene |
RCV001540161 | SCV001758014 | likely benign | not provided | 2021-02-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001540161 | SCV002353714 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing |