Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000043572 | SCV000597293 | likely pathogenic | Microcephaly-capillary malformation syndrome | 2017-04-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000043572 | SCV000071442 | pathogenic | Microcephaly-capillary malformation syndrome | 2013-05-01 | no assertion criteria provided | literature only |