Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211309 | SCV001382841 | likely benign | Bethlem myopathy 1 | 2023-02-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002562371 | SCV003543663 | uncertain significance | Inborn genetic diseases | 2022-05-11 | criteria provided, single submitter | clinical testing | The c.1790T>G (p.L597W) alteration is located in exon 28 (coding exon 28) of the COL6A1 gene. This alteration results from a T to G substitution at nucleotide position 1790, causing the leucine (L) at amino acid position 597 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |