Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000613592 | SCV000728853 | benign | not specified | 2017-08-08 | 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. |
Labcorp Genetics |
RCV000971588 | SCV001119243 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000971588 | SCV001473845 | benign | not provided | 2020-08-24 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002279431 | SCV002567216 | benign | Connective tissue disorder | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491291 | SCV002795504 | likely benign | Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondylometaphyseal dysplasia - Sutcliffe type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000613592 | SCV001809508 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000613592 | SCV001925382 | benign | not specified | no assertion criteria provided | clinical testing |