Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics |
RCV000757976 | SCV000839871 | pathogenic | Bardet-Biedl syndrome | 2018-09-15 | criteria provided, single submitter | clinical testing | Absent from gnomAD and 1000genomes, predicted to alter protein function (GDP/GTP exchange) |
OMIM | RCV001537636 | SCV001754536 | pathogenic | Bardet-Biedl syndrome 19 | 2021-08-03 | no assertion criteria provided | literature only |