Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000513679 | SCV000609711 | likely pathogenic | not provided | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496980 | SCV002816099 | likely pathogenic | Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Obesity; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome | 2021-07-20 | criteria provided, single submitter | clinical testing |