Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192681 | SCV000246336 | benign | not specified | 2017-02-13 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000192681 | SCV000317014 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001086483 | SCV000653881 | benign | Congenital myasthenic syndrome 8 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000761626 | SCV000891796 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | AGRN: BS2 |
Gene |
RCV000761626 | SCV002575218 | likely benign | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Laboratory of Diagnostic Genome Analysis, |
RCV000761626 | SCV001799260 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000761626 | SCV001929115 | likely benign | not provided | no assertion criteria provided | clinical testing |