Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622386 | SCV000742071 | pathogenic | Inborn genetic diseases | 2016-12-16 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002247241 | SCV002520041 | pathogenic | not provided | 2021-12-27 | criteria provided, single submitter | clinical testing | PP1, PM2, PM3, PS3, PVS1 |
Genome- |
RCV000002374 | SCV003931399 | pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002374 | SCV000022532 | pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2004-03-01 | no assertion criteria provided | literature only |