Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040992 | SCV001204586 | likely benign | Bethlem myopathy 1 | 2023-01-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811626 | SCV001474258 | uncertain significance | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001811626 | SCV003832519 | uncertain significance | not provided | 2022-07-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160269 | SCV003907592 | uncertain significance | Inborn genetic diseases | 2023-02-23 | criteria provided, single submitter | clinical testing | The c.532G>A (p.E178K) alteration is located in exon 3 (coding exon 2) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 532, causing the glutamic acid (E) at amino acid position 178 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |