Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733354 | SCV000861410 | likely benign | not specified | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000896788 | SCV001040897 | benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279507 | SCV002564897 | likely benign | Osteogenesis imperfecta | 2022-02-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493354 | SCV002801668 | likely benign | Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts | 2021-11-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000896788 | SCV004137103 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | LRP5: BP4, BP7 |
Genome Diagnostics Laboratory, |
RCV000896788 | SCV001807492 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000733354 | SCV001924966 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000896788 | SCV001965938 | likely benign | not provided | no assertion criteria provided | clinical testing |