Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000405439 | SCV000379014 | benign | Type II Collagenopathies | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000284682 | SCV000379015 | likely benign | Stickler syndrome type 1 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000906542 | SCV000525782 | benign | not provided | 2018-06-20 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000435560 | SCV000703468 | likely benign | not specified | 2016-12-09 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659395 | SCV000781206 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000906542 | SCV001051187 | benign | not provided | 2025-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000435560 | SCV001157017 | benign | not specified | 2018-12-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502212 | SCV002806690 | 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 | 2021-12-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000906542 | SCV004130670 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | COL2A1: BP4, BS1 |
Breakthrough Genomics, |
RCV000906542 | SCV005216727 | likely benign | not provided | criteria provided, single submitter | not provided |