Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694923 | SCV000823391 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001331209 | SCV001523201 | uncertain significance | Ullrich congenital muscular dystrophy 2 | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001556084 | SCV001777601 | uncertain significance | not provided | 2023-04-17 | 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 |