Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000703514 | SCV000832417 | likely benign | Bethlem myopathy 1A | 2022-10-08 | criteria provided, single submitter | clinical testing | |
Centogene AG - |
RCV000703514 | SCV002059473 | uncertain significance | Bethlem myopathy 1A | 2020-04-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144563 | SCV003832482 | uncertain significance | not provided | 2023-02-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003144563 | SCV004149941 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026631 | SCV004929512 | uncertain significance | Inborn genetic diseases | 2023-09-20 | criteria provided, single submitter | clinical testing | The c.2153G>A (p.S718N) alteration is located in exon 26 (coding exon 25) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 2153, causing the serine (S) at amino acid position 718 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |