Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000425498 | SCV000510633 | likely benign | not provided | 2016-12-02 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001086363 | SCV000632113 | benign | Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000425498 | SCV001143476 | benign | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252118 | SCV002523440 | likely benign | See cases | 2020-01-03 | criteria provided, single submitter | clinical testing | ACMG classification criteria: BS1, BP1, BP4 |