Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000239585 | SCV002019569 | pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000239585 | SCV004801216 | pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2024-03-14 | criteria provided, single submitter | research | |
OMIM | RCV000239585 | SCV000297968 | pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2020-11-24 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000239585 | SCV001133032 | likely pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | 2019-09-26 | no assertion criteria provided | clinical testing |