Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000382585 | SCV000343069 | uncertain significance | not provided | 2018-01-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001080623 | SCV000775491 | likely benign | Bethlem myopathy 1A | 2025-01-28 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001141702 | SCV001302067 | likely benign | Collagen 6-related myopathy | 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 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 |
RCV000382585 | SCV001803560 | uncertain significance | not provided | 2024-09-11 | criteria provided, single submitter | clinical testing | Reported in an individual with pneumonia, neonatal respiratory distress, umbilical hernia, and hypoglycemia, who harbored a second COL6A2 variant in trans, as well as two variants in the DNAH11 gene (PMID: 31965297); In silico analysis indicates that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 31965297) |