Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000149937 | SCV000196788 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Illumina Laboratory Services, |
RCV000316783 | SCV000436778 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000373797 | SCV000436779 | uncertain significance | Myosclerosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001053729 | SCV001218005 | likely benign | Bethlem myopathy 1 | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002514870 | SCV003633333 | uncertain significance | Inborn genetic diseases | 2021-07-06 | criteria provided, single submitter | clinical testing | The c.2566G>A (p.V856M) alteration is located in exon 28 (coding exon 27) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 2566, causing the valine (V) at amino acid position 856 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000149937 | SCV003832514 | uncertain significance | not provided | 2019-07-29 | criteria provided, single submitter | clinical testing |