Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243590 | SCV001416758 | likely benign | Bethlem myopathy 1 | 2022-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002564068 | SCV003757764 | uncertain significance | Inborn genetic diseases | 2021-06-18 | criteria provided, single submitter | clinical testing | The c.817A>T (p.M273L) alteration is located in exon 6 (coding exon 5) of the COL6A2 gene. This alteration results from a A to T substitution at nucleotide position 817, causing the methionine (M) at amino acid position 273 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |