Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195214 | SCV000247360 | likely benign | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000195214 | SCV000250097 | benign | not specified | 2017-09-22 | 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 |
RCV000205887 | SCV000261635 | benign | Congenital contractural arachnodactyly | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000195214 | SCV000308587 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002310751 | SCV000317688 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-06-06 | 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 |
RCV000195214 | SCV000344402 | benign | not specified | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000205887 | SCV000452643 | benign | Congenital contractural arachnodactyly | 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. |
Center for Pediatric Genomic Medicine, |
RCV000514320 | SCV000610047 | likely benign | not provided | 2017-08-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000514320 | SCV000697891 | benign | not provided | 2017-03-29 | criteria provided, single submitter | clinical testing | Variant summary: The FBN2 c.1040G>A (p.Arg347His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 547/121296 control chromosomes (3 homozygotes) at a frequency of 0.0045096, which is approximately 3608 times the estimated maximal expected allele frequency of a pathogenic FBN2 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign. |
Center for Human Genetics, |
RCV000659597 | SCV000781436 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000514320 | SCV000883872 | benign | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514320 | SCV002563853 | benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | FBN2: BS1, BS2 |
Genome Diagnostics Laboratory, |
RCV002277453 | SCV002565873 | benign | Ehlers-Danlos syndrome | 2022-06-10 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000659597 | SCV002566552 | benign | Connective tissue disorder | 2021-12-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000514320 | SCV005225270 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000514320 | SCV001800517 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000514320 | SCV001932728 | likely benign | not provided | no assertion criteria provided | clinical testing |