Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001456916 | SCV001660709 | likely benign | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001456916 | SCV001793575 | likely benign | not provided | 2021-01-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501602 | SCV002811285 | 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 | 2021-09-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004540366 | SCV004774574 | likely benign | COL2A1-related disorder | 2022-07-25 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |