Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230248 | SCV001402722 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002293514 | SCV002586636 | uncertain significance | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Revvity Omics, |
RCV002293514 | SCV003832821 | uncertain significance | not provided | 2019-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166400 | SCV003884035 | uncertain significance | Inborn genetic diseases | 2023-02-16 | criteria provided, single submitter | clinical testing | The c.2653G>A (p.A885T) alteration is located in exon 13 (coding exon 12) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 2653, causing the alanine (A) at amino acid position 885 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |