Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624514 | SCV000742304 | likely pathogenic | Inborn genetic diseases | 2017-04-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002387 | SCV000022545 | pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2010-02-01 | no assertion criteria provided | literature only |