Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056067 | SCV001220486 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160452 | SCV003881883 | uncertain significance | Inborn genetic diseases | 2023-02-28 | criteria provided, single submitter | clinical testing | The c.2473C>G (p.P825A) alteration is located in exon 13 (coding exon 12) of the COL12A1 gene. This alteration results from a C to G substitution at nucleotide position 2473, causing the proline (P) at amino acid position 825 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |