Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000307379 | SCV000369907 | likely benign | Autosomal recessive DOPA responsive dystonia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000387514 | SCV000483268 | likely benign | Transient Neonatal Diabetes, Dominant/Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000274394 | SCV000483269 | likely benign | Maturity onset diabetes mellitus in young | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000307379 | SCV000563357 | benign | Autosomal recessive DOPA responsive dystonia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713848 | SCV000844485 | benign | not provided | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713848 | SCV001943902 | benign | not provided | 2018-10-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000307379 | SCV001459700 | benign | Autosomal recessive DOPA responsive dystonia | 2020-09-16 | no assertion criteria provided | clinical testing |