Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686747 | SCV000814279 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-03-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144486 | SCV003832828 | uncertain significance | not provided | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003278989 | SCV003959313 | uncertain significance | Inborn genetic diseases | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.9187G>A (p.G3063S) alteration is located in exon 66 (coding exon 65) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 9187, causing the glycine (G) at amino acid position 3063 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003144486 | SCV004170697 | uncertain significance | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |