Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000203040 | SCV000258105 | benign | not specified | 2015-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085443 | SCV000290222 | benign | Developmental and epileptic encephalopathy, 1; Autosomal recessive spinocerebellar ataxia 12 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000203040 | SCV000312703 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Center for Pediatric Genomic Medicine, |
RCV000433686 | SCV000511100 | likely benign | not provided | 2016-07-11 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000433686 | SCV000521297 | benign | not provided | 2018-05-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30949922, 27884173, 21983861, 25612104, 11572989, 20480411, 24082139) |
Genetic Services Laboratory, |
RCV000203040 | SCV000597993 | benign | not specified | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000433686 | SCV000844898 | benign | not provided | 2018-10-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243885 | SCV002513883 | benign | Developmental and epileptic encephalopathy, 28 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243884 | SCV002513884 | benign | Autosomal recessive spinocerebellar ataxia 12 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000433686 | SCV002545814 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | WWOX: BS1, BS2 |