Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218445 | SCV001390327 | likely benign | Bethlem myopathy 1 | 2023-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002281170 | SCV002569537 | uncertain significance | not provided | 2022-03-03 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV002281170 | SCV003833870 | uncertain significance | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003284068 | SCV003961860 | uncertain significance | Inborn genetic diseases | 2023-03-17 | criteria provided, single submitter | clinical testing | The c.1297C>T (p.R433W) alteration is located in exon 19 (coding exon 19) of the COL6A1 gene. This alteration results from a C to T substitution at nucleotide position 1297, causing the arginine (R) at amino acid position 433 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |