Total submissions: 26
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035246 | SCV000058892 | benign | not specified | 2007-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000035246 | SCV000168457 | benign | not specified | 2013-06-22 | 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. |
Labcorp Genetics |
RCV000755530 | SCV000262020 | benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000035246 | SCV000302575 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000252933 | SCV000317795 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2014-08-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Eurofins Ntd Llc |
RCV000035246 | SCV000342705 | benign | not specified | 2016-07-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000296128 | SCV000392208 | benign | Acromicric dysplasia | 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, |
RCV000029765 | SCV000392210 | benign | Marfan syndrome | 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, |
RCV000311471 | SCV000392211 | benign | Ectopia lentis 1, isolated, autosomal dominant | 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, |
RCV000347609 | SCV000392212 | benign | Geleophysic dysplasia | 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, |
RCV000394388 | SCV000392213 | benign | Stiff skin syndrome | 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, |
RCV000307878 | SCV000392214 | benign | Weill-Marchesani syndrome | 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, |
RCV000252933 | SCV000392215 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 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. |
ARUP Laboratories, |
RCV001531821 | SCV000603617 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659567 | SCV000781401 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000029765 | SCV000807916 | likely benign | Marfan syndrome | 2018-06-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000252933 | SCV000901027 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000252933 | SCV000902735 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531821 | SCV001747115 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | FBN1: BP4, BP7, BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV000659567 | SCV002566543 | benign | Connective tissue disorder | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Cohesion Phenomics | RCV000029765 | SCV003836756 | likely benign | Marfan syndrome | 2022-09-23 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001531821 | SCV005212657 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029765 | SCV000052418 | benign | Marfan syndrome | 2012-02-03 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000035246 | SCV001808080 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001531821 | SCV001957494 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001531821 | SCV001974532 | likely benign | not provided | no assertion criteria provided | clinical testing |