Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000374945 | SCV000451409 | benign | Hyaline fibromatosis syndrome | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Broad Center for Mendelian Genomics, |
RCV001258274 | SCV001435199 | benign | Central core myopathy | criteria provided, single submitter | research | The homozygous c.225-4G>A variant in ANTXR2 has been identified in an individual with hyaline fibromatosis syndrome (PMID: 22300424), but has also been identified in >3% of European (non-Finnish) chromosomes and 12 total homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive hyaline fibromatosis syndrome. | |
Gene |
RCV001723950 | SCV001950741 | benign | not provided | 2020-12-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27884173, 27535533, 22300424, 14508707) |
Ce |
RCV001723950 | SCV004152815 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | ANTXR2: BP4, BS1, BS2 |