Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062877 | SCV001227701 | benign | Bethlem myopathy 1 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002555815 | SCV003726230 | uncertain significance | Inborn genetic diseases | 2022-10-03 | criteria provided, single submitter | clinical testing | The c.1940G>A (p.R647Q) alteration is located in exon 30 (coding exon 30) of the COL6A1 gene. This alteration results from a G to A substitution at nucleotide position 1940, causing the arginine (R) at amino acid position 647 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003145321 | SCV003833800 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing |