Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815338 | SCV000955787 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001759584 | SCV002007764 | uncertain significance | not provided | 2022-09-09 | 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 |
Fulgent Genetics, |
RCV000815338 | SCV002788137 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2022-04-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534866 | SCV003716936 | uncertain significance | Inborn genetic diseases | 2022-08-08 | criteria provided, single submitter | clinical testing | The c.118A>G (p.T40A) alteration is located in exon 3 (coding exon 2) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 118, causing the threonine (T) at amino acid position 40 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |