Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812517 | SCV000952833 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537374 | SCV003544864 | uncertain significance | Inborn genetic diseases | 2021-12-03 | criteria provided, single submitter | clinical testing | The c.2323A>G (p.R775G) alteration is located in exon 12 (coding exon 11) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 2323, causing the arginine (R) at amino acid position 775 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003225130 | SCV003921555 | uncertain significance | not provided | 2022-10-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |