Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499483 | SCV000596399 | likely benign | not specified | 2017-06-02 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514378 | SCV000610901 | likely benign | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000986967 | SCV000655086 | benign | Intellectual disability, autosomal recessive 42 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986967 | SCV001136130 | likely benign | Intellectual disability, autosomal recessive 42 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514378 | SCV001747291 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | PGAP1: BP4, BS2 |
Genome Diagnostics Laboratory, |
RCV001848872 | SCV002105446 | benign | Hereditary spastic paraplegia | 2021-12-13 | criteria provided, single submitter | clinical testing |