Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178614 | SCV000230729 | benign | not specified | 2015-04-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001579373 | SCV000603111 | benign | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000548921 | SCV000627241 | benign | Osteogenesis imperfecta type I | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000178614 | SCV000729110 | benign | not specified | 2017-03-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics | RCV000178614 | SCV001476965 | benign | not specified | 2020-02-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277408 | SCV002564729 | benign | Osteogenesis imperfecta | 2022-03-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277409 | SCV002565521 | benign | Ehlers-Danlos syndrome | 2020-12-21 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001579373 | SCV005249948 | benign | not provided | criteria provided, single submitter | not provided | ||
Genome Diagnostics Laboratory, |
RCV001579373 | SCV001806988 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000178614 | SCV001975923 | benign | not specified | no assertion criteria provided | clinical testing |