Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000215858 | SCV000271593 | uncertain significance | not specified | 2015-11-05 | criteria provided, single submitter | clinical testing | The p.Gln251Leu variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 5/8654 of East Asian chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; rs2 01399429). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Gln251Leu variant is uncertain. |
| Illumina Laboratory Services, |
RCV000357558 | SCV000462581 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000262918 | SCV000462582 | uncertain significance | Fibrochondrogenesis 2 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Illumina Laboratory Services, |
RCV000372958 | SCV000462584 | uncertain significance | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Illumina Laboratory Services, |
RCV000278458 | SCV000462585 | likely benign | Stickler Syndrome, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002517538 | SCV003008739 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing |