Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253666 | SCV000306137 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000401626 | SCV000419493 | benign | Congenital Myasthenic Syndrome, Dominant/Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000311146 | SCV000419494 | benign | Autosomal recessive multiple pterygium syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705341 | SCV000729918 | benign | not provided | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520951 | SCV001730174 | benign | Lethal multiple pterygium syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001520951 | SCV001806473 | benign | Lethal multiple pterygium syndrome | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579073 | SCV001806474 | benign | Congenital myasthenic syndrome 1A | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579074 | SCV001806475 | benign | Myasthenic syndrome, congenital, 1B, fast-channel | 2021-07-22 | criteria provided, single submitter | clinical testing |