Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000691444 | SCV000819222 | likely benign | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000691444 | SCV000895826 | uncertain significance | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003144513 | SCV003830757 | uncertain significance | not provided | 2020-08-19 | criteria provided, single submitter | clinical testing |