Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192826 | SCV000249057 | likely pathogenic | Microcephaly-capillary malformation syndrome | 2014-09-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000192826 | SCV001525185 | likely pathogenic | Microcephaly-capillary malformation syndrome | 2020-06-08 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |