Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000371779 | SCV000470553 | benign | Ehlers-danlos syndrome, arthrochalasia type, 2 | 2018-01-13 | 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, |
RCV000260651 | SCV000470554 | benign | Osteogenesis imperfecta | 2018-01-13 | 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. |
Gene |
RCV000443633 | SCV000518770 | benign | not specified | 2016-10-24 | 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 | RCV000443633 | SCV000612913 | benign | not specified | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088162 | SCV000627284 | benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757105 | SCV000885219 | likely benign | not provided | 2017-05-21 | criteria provided, single submitter | clinical testing | The p.Arg41His variant (rs139528613) was reported as identified by whole exome sequencing in three African-American mothers with premature ruptures of membranes (Modi 2017). However, the p.Arg41His variant has been identified with allele frequency of 1.0 percent (on 242 out of 24,024 chromosomes) in African populations and with an overall population frequency of 0.09 percent (identified on 258 out of 277,154 chromosomes) and in gnomAD browser. Additionally, the p.Arg41His variant is also listed in the ClinVar database with current classification of benign or likely benign (Variation ID 360944). |
Genome Diagnostics Laboratory, |
RCV000260651 | SCV002564765 | likely benign | Osteogenesis imperfecta | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374600 | SCV002667389 | benign | Cardiovascular phenotype | 2020-10-29 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003932489 | SCV004754111 | benign | COL1A2-related disorder | 2019-10-25 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |