Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000412666 | SCV000236575 | likely pathogenic | SSR4-congenital disorder of glycosylation | 2013-12-12 | no assertion criteria provided | clinical testing | |
OMIM | RCV000412666 | SCV000490216 | pathogenic | SSR4-congenital disorder of glycosylation | 2016-11-28 | no assertion criteria provided | literature only |