Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801413 | SCV000941187 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-12-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534678 | SCV003733437 | uncertain significance | Inborn genetic diseases | 2022-08-17 | criteria provided, single submitter | clinical testing | The c.8812C>T (p.R2938C) alteration is located in exon 63 (coding exon 62) of the COL12A1 gene. This alteration results from a C to T substitution at nucleotide position 8812, causing the arginine (R) at amino acid position 2938 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |