Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214622 | SCV000268898 | benign | not specified | 2015-09-08 | criteria provided, single submitter | clinical testing | p.Pro77Gln in exon 2 of COL11A2: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (106/16382) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs35765893). |
Illumina Laboratory Services, |
RCV000275901 | SCV000462602 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 2018-01-13 | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV000333347 | SCV000462603 | likely benign | Stickler Syndrome, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385285 | SCV000462604 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000274718 | SCV000462605 | likely benign | Fibrochondrogenesis 2 | 2018-01-13 | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV001722140 | SCV000728876 | benign | not provided | 2018-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001722140 | SCV002410693 | benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277574 | SCV002566860 | likely benign | Connective tissue disorder | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165522 | SCV003871628 | uncertain significance | Inborn genetic diseases | 2023-03-07 | criteria provided, single submitter | clinical testing | The c.230C>A (p.P77Q) alteration is located in exon 2 (coding exon 2) of the COL11A2 gene. This alteration results from a C to A substitution at nucleotide position 230, causing the proline (P) at amino acid position 77 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |